Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733156C>A , CM000666.2:g.54733156C>A	GRCh38
NC_000004.11:g.55599322C>A , CM000666.1:g.55599322C>A	GRCh37
NC_000004.10:g.55294079C>A	NCBI36
NG_007456.1:g.80162C>A , LRG_307:g.80162C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000222.3:c.2448C>A MANE Select	NP_000213.1:p.Asp816Glu
ENST00000288135.6:c.2448C>A MANE Select	ENSP00000288135.6:p.Asp816Glu
NM_000222.2:c.2448C>A , LRG_307t1:c.2448C>A	NP_000213.1:p.Asp816Glu
NM_001093772.1:c.2436C>A	NP_001087241.1:p.Asp812Glu
NM_001093772.2:c.2436C>A	NP_001087241.1:p.Asp812Glu
NM_001385284.1:c.2451C>A	NP_001372213.1:p.Asp817Glu
NM_001385285.1:c.2445C>A	NP_001372214.1:p.Asp815Glu
NM_001385286.1:c.2433C>A	NP_001372215.1:p.Asp811Glu
NM_001385288.1:c.2439C>A	NP_001372217.1:p.Asp813Glu
NM_001385290.1:c.2448C>A	NP_001372219.1:p.Asp816Glu
NM_001385292.1:c.2436C>A	NP_001372221.1:p.Asp812Glu
ENST00000288135.5:c.2448C>A	ENSP00000288135.5:p.Asp816Glu
ENST00000412167.6:c.2436C>A	ENSP00000390987.2:p.Asp812Glu
ENST00000412167.7:c.2436C>A	ENSP00000390987.3:p.Asp812Glu
ENST00000512959.1:n.501C>A
ENST00000685269.1:n.2526C>A
ENST00000686011.1:c.2433C>A	ENSP00000509704.1:p.Asp811Glu
ENST00000687109.1:c.2451C>A	ENSP00000509371.1:p.Asp817Glu
ENST00000687208.1:n.2860C>A
ENST00000687246.1:c.2349+1158C>A	ENSP00000509114.1:n.2349+1158C>A
ENST00000687265.1:n.2606C>A
ENST00000687295.1:c.2436C>A	ENSP00000509450.1:p.Asp812Glu
ENST00000688060.1:n.245C>A
ENST00000688704.1:n.1460C>A
ENST00000689832.1:c.2448C>A	ENSP00000509084.1:p.Asp816Glu
ENST00000689994.1:c.1938C>A	ENSP00000509156.1:p.Asp646Glu
ENST00000690543.1:c.2439C>A	ENSP00000508831.1:p.Asp813Glu
ENST00000690917.1:n.2666C>A
ENST00000691361.1:n.1358C>A
ENST00000692783.1:c.2445C>A	ENSP00000508733.1:p.Asp815Glu
ENST00000692991.1:n.2545C>A
XM_005265740.1:c.2451C>A	XP_005265797.1:p.Asp817Glu
XM_005265741.1:c.2448C>A	XP_005265798.1:p.Asp816Glu
XM_005265742.1:c.2439C>A	XP_005265799.1:p.Asp813Glu
XM_005265742.3:c.2439C>A	XP_005265799.1:p.Asp813Glu
XM_017008178.1:c.2445C>A	XP_016863667.1:p.Asp815Glu
XM_017008179.1:c.2436C>A	XP_016863668.1:p.Asp812Glu
XM_017008180.1:c.2433C>A	XP_016863669.1:p.Asp811Glu