Canonical Allele Identifier: CA2974346269
Community Standard Title: NM_000022.4(ADA):c.780+78G>T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44622751C>A , CM000682.2:g.44622751C>A GRCh38
NC_000020.10:g.43251392C>A , CM000682.1:g.43251392C>A GRCh37
NC_000020.9:g.42684806C>A NCBI36
NG_007385.1:g.33985G>T , LRG_16:g.33985G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000022.4:c.780+78G>T (ADA) MANE Select NP_000013.2:n.780+78G>T
ENST00000372874.9:c.780+78G>T (ADA) MANE Select ENSP00000361965.4:n.780+78G>T
NM_000022.2:c.780+78G>T , LRG_16t1:c.780+78G>T (ADA) NP_000013.2:n.780+78G>T
NM_000022.3:c.780+78G>T (ADA) NP_000013.2:n.780+78G>T
NM_001322050.1:c.375+78G>T (ADA) NP_001308979.1:n.375+78G>T
NM_001322050.2:c.375+78G>T (ADA) NP_001308979.1:n.375+78G>T
NM_001322051.1:c.708+78G>T (ADA) NP_001308980.1:n.708+78G>T
NM_001322051.2:c.708+78G>T (ADA) NP_001308980.1:n.708+78G>T
NR_136160.1:n.931+78G>T (ADA)
NR_136160.2:n.872+78G>T (ADA)
ENST00000372874.8:c.780+78G>T (ADA) ENSP00000361965.4:n.780+78G>T
ENST00000372887.5:c.152-1182C>A (PKIG) ENSP00000361978.1:n.152-1182C>A
ENST00000464097.5:n.530+78G>T (ADA)
ENST00000492931.5:n.940+78G>T (ADA)
ENST00000492931.6:n.947+78G>T (ADA)
ENST00000536076.2:c.627+78G>T (ADA) ENSP00000512234.1:n.627+78G>T
ENST00000536532.5:c.780+78G>T (ADA) ENSP00000440946.1:n.780+78G>T
ENST00000536532.6:c.780+78G>T (ADA) ENSP00000440946.1:n.780+78G>T
ENST00000537820.1:c.708+78G>T (ADA) ENSP00000441818.1:n.708+78G>T
ENST00000537820.2:c.708+78G>T (ADA) ENSP00000441818.1:n.708+78G>T
ENST00000539235.5:c.*164+78G>T (ADA) ENSP00000446464.1:n.*164+78G>T
ENST00000539235.6:c.*164+78G>T (ADA) ENSP00000446464.1:n.*164+78G>T
ENST00000695889.1:c.320+78G>T (ADA) ENSP00000512240.1:n.320+78G>T
ENST00000695890.1:n.2737G>T (ADA)
ENST00000695891.1:c.320+78G>T (ADA) ENSP00000512241.1:n.320+78G>T
ENST00000695927.1:c.858+78G>T (ADA) ENSP00000512270.1:n.858+78G>T
ENST00000695949.1:c.705+78G>T (ADA) ENSP00000512281.1:n.705+78G>T
ENST00000695957.1:c.*271+78G>T (ADA) ENSP00000512286.1:n.*271+78G>T
ENST00000695991.1:c.318+78G>T (ADA) ENSP00000512314.1:n.318+78G>T
ENST00000695992.1:c.780+78G>T (ADA) ENSP00000512315.1:n.780+78G>T
ENST00000695993.1:c.780+78G>T (ADA) ENSP00000512316.1:n.780+78G>T
ENST00000695994.1:c.753+78G>T (ADA) ENSP00000512317.1:n.753+78G>T
ENST00000695995.1:c.390+78G>T (ADA) ENSP00000512318.1:n.390+78G>T
ENST00000695996.1:n.927+78G>T (ADA)
ENST00000696003.1:n.1026G>T (ADA)
ENST00000696004.1:n.948+78G>T (ADA)
ENST00000696005.1:c.230+78G>T (ADA)
ENST00000696006.1:c.708+78G>T (ADA) ENSP00000512325.1:n.708+78G>T
ENST00000696007.1:c.707+78G>T (ADA) ENSP00000512326.1:n.707+78G>T
ENST00000696008.1:n.3134+78G>T (ADA)
ENST00000696017.1:c.777+78G>T (ADA) ENSP00000512333.1:n.777+78G>T
ENST00000696034.1:c.780+78G>T (ADA) ENSP00000512343.1:n.780+78G>T
ENST00000696035.1:n.966+78G>T (ADA)
ENST00000696036.1:n.1546+78G>T (ADA)
ENST00000696037.1:n.2457+78G>T (ADA)
ENST00000696038.1:c.*602+78G>T (ADA) ENSP00000512344.1:n.*602+78G>T
ENST00000696039.1:n.1144+78G>T (ADA)
ENST00000696058.1:c.777+78G>T (ADA) ENSP00000512361.1:n.777+78G>T
ENST00000696059.1:c.*725+78G>T (ADA) ENSP00000512362.1:n.*725+78G>T
ENST00000696060.1:c.849+78G>T (ADA) ENSP00000512363.1:n.849+78G>T
ENST00000696061.1:c.777+78G>T (ADA) ENSP00000512364.1:n.777+78G>T
ENST00000696062.1:c.843+78G>T (ADA) ENSP00000512365.1:n.843+78G>T
ENST00000696063.1:c.855+78G>T (ADA) ENSP00000512366.1:n.855+78G>T
ENST00000696064.1:c.627+78G>T (ADA) ENSP00000512367.1:n.627+78G>T
ENST00000696065.1:c.167+78G>T (ADA) ENSP00000512368.1:n.167+78G>T
ENST00000696073.1:n.1091+78G>T (ADA)
ENST00000696074.1:n.396+78G>T (ADA)
ENST00000696075.1:c.*750+78G>T (ADA) ENSP00000512374.1:n.*750+78G>T
ENST00000696076.1:c.849+78G>T (ADA) ENSP00000512375.1:n.849+78G>T
ENST00000696077.1:c.774+78G>T (ADA) ENSP00000512376.1:n.774+78G>T
ENST00000696078.1:c.777+78G>T (ADA) ENSP00000512377.1:n.777+78G>T
ENST00000696079.1:c.777+78G>T (ADA) ENSP00000512378.1:n.777+78G>T
ENST00000696080.1:c.780+78G>T (ADA) ENSP00000512379.1:n.780+78G>T
ENST00000696081.1:n.899+78G>T (ADA)
ENST00000696082.1:c.855+78G>T (ADA) ENSP00000512380.1:n.855+78G>T
ENST00000696083.1:n.1737+78G>T (ADA)
ENST00000696084.1:n.957+78G>T (ADA)
ENST00000696104.1:c.464+78G>T (ADA) ENSP00000512399.1:n.464+78G>T
XM_005260236.2:c.708+78G>T (ADA) XP_005260293.1:n.708+78G>T
XM_011528478.1:c.375+78G>T (ADA) XP_011526780.1:n.375+78G>T
XM_011528479.1:c.375+78G>T (ADA) XP_011526781.1:n.375+78G>T
XR_244129.1:n.834+78G>T (ADA)