Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624267C>G , CM000682.2:g.44624267C>G	GRCh38
NC_000020.10:g.43252908C>G , CM000682.1:g.43252908C>G	GRCh37
NC_000020.9:g.42686322C>G	NCBI36
NG_007385.1:g.32469G>C , LRG_16:g.32469G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.632G>C
ENST00000536076.2:c.388G>C	ENSP00000512234.1:p.Asp130His
ENST00000536532.6:c.541G>C	ENSP00000440946.1:p.Asp181His
ENST00000537820.2:c.541G>C	ENSP00000441818.1:p.Asp181His
ENST00000539235.6:c.219-1189G>C	ENSP00000446464.1:n.219-1189G>C
ENST00000695889.1:c.219-1337G>C	ENSP00000512240.1:n.219-1337G>C
ENST00000695890.1:n.2344G>C
ENST00000695891.1:c.219-1337G>C	ENSP00000512241.1:n.219-1337G>C
ENST00000695927.1:c.619G>C	ENSP00000512270.1:p.Asp207His
ENST00000695949.1:c.538G>C	ENSP00000512281.1:p.Asp180His
ENST00000695957.1:c.*32G>C	ENSP00000512286.1:n.*32G>C
ENST00000695991.1:c.217-1337G>C	ENSP00000512314.1:n.217-1337G>C
ENST00000695992.1:c.541G>C	ENSP00000512315.1:p.Asp181His
ENST00000695993.1:c.541G>C	ENSP00000512316.1:p.Asp181His
ENST00000695994.1:c.541G>C	ENSP00000512317.1:p.Asp181His
ENST00000695995.1:c.217-1189G>C	ENSP00000512318.1:n.217-1189G>C
ENST00000695996.1:n.612G>C
ENST00000695997.1:n.496G>C
ENST00000696003.1:n.633G>C
ENST00000696004.1:n.633G>C
ENST00000696005.1:c.63G>C
ENST00000696006.1:c.541G>C	ENSP00000512325.1:p.Asp181His
ENST00000696007.1:c.392G>C	ENSP00000512326.1:n.392G>C
ENST00000696008.1:n.1696G>C
ENST00000696009.1:n.1891G>C
ENST00000696017.1:c.538G>C	ENSP00000512333.1:p.Asp180His
ENST00000696034.1:c.541G>C	ENSP00000512343.1:p.Asp181His
ENST00000696035.1:n.651G>C
ENST00000696036.1:n.1231G>C
ENST00000696037.1:n.2218G>C
ENST00000696038.1:c.*287G>C	ENSP00000512344.1:n.*287G>C
ENST00000696039.1:n.829G>C
ENST00000696058.1:c.541G>C	ENSP00000512361.1:p.Asp181His
ENST00000696059.1:c.*486G>C	ENSP00000512362.1:n.*486G>C
ENST00000696060.1:c.541G>C	ENSP00000512363.1:p.Asp181His
ENST00000696061.1:c.538G>C	ENSP00000512364.1:p.Asp180His
ENST00000696062.1:c.604G>C	ENSP00000512365.1:p.Asp202His
ENST00000696063.1:c.616G>C	ENSP00000512366.1:p.Asp206His
ENST00000696064.1:c.388G>C	ENSP00000512367.1:p.Asp130His
ENST00000696065.1:c.66-1337G>C	ENSP00000512368.1:n.66-1337G>C
ENST00000696074.1:n.157G>C
ENST00000696075.1:c.*511G>C	ENSP00000512374.1:n.*511G>C
ENST00000696076.1:c.541G>C	ENSP00000512375.1:p.Asp181His
ENST00000696077.1:c.538G>C	ENSP00000512376.1:p.Asp180His
ENST00000696078.1:c.541G>C	ENSP00000512377.1:p.Asp181His
ENST00000696079.1:c.541G>C	ENSP00000512378.1:p.Asp181His
ENST00000696080.1:c.541G>C	ENSP00000512379.1:p.Asp181His
ENST00000696081.1:n.660G>C
ENST00000696082.1:c.619G>C	ENSP00000512380.1:p.Asp207His
ENST00000696083.1:n.1422G>C
ENST00000696084.1:n.642G>C
ENST00000696104.1:c.363-1337G>C	ENSP00000512399.1:n.363-1337G>C
ENST00000696105.1:c.*82G>C	ENSP00000512400.1:n.*82G>C
ENST00000372874.9:c.541G>C MANE Select	ENSP00000361965.4:p.Asp181His
ENST00000372874.8:c.541G>C	ENSP00000361965.4:p.Asp181His
ENST00000464097.5:n.215G>C
ENST00000492931.5:n.625G>C
ENST00000536532.5:c.541G>C	ENSP00000440946.1:p.Asp181His
ENST00000537820.1:c.541G>C	ENSP00000441818.1:p.Asp181His
ENST00000539235.5:c.219-1189G>C	ENSP00000446464.1:n.219-1189G>C
NM_000022.2:c.541G>C , LRG_16t1:c.541G>C	NP_000013.2:p.Asp181His
XM_005260236.2:c.541G>C	XP_005260293.1:p.Asp181His
XM_011528478.1:c.136G>C	XP_011526780.1:p.Asp46His
XM_011528479.1:c.136G>C	XP_011526781.1:p.Asp46His
XR_244129.1:n.595G>C
NM_000022.3:c.541G>C	NP_000013.2:p.Asp181His
NM_001322050.1:c.136G>C	NP_001308979.1:p.Asp46His
NM_001322051.1:c.541G>C	NP_001308980.1:p.Asp181His
NR_136160.1:n.692G>C
NM_000022.4:c.541G>C MANE Select	NP_000013.2:p.Asp181His
NM_001322050.2:c.136G>C	NP_001308979.1:p.Asp46His
NM_001322051.2:c.541G>C	NP_001308980.1:p.Asp181His
NR_136160.2:n.633G>C

Linked Data

Genomic Alleles

Transcript Alleles