Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78037246A= , CM000672.2:g.78037246A=	GRCh38
NC_000010.10:g.79797004A= , CM000672.1:g.79797004A=	GRCh37
NC_000010.9:g.79467010A=	NCBI36
NG_012633.1:g.8487A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360830.9:c.332A=	ENSP00000354074.5:p.Lys111=
ENST00000372360.9:c.332A= MANE Select	ENSP00000361435.4:p.Lys111=
ENST00000440692.6:c.332A=	ENSP00000414321.1:p.Lys111=
ENST00000464716.6:c.332A=	ENSP00000494231.1:p.Lys111=
ENST00000465692.2:n.343A=
ENST00000476545.6:c.332A=	ENSP00000494169.1:p.Lys111=
ENST00000478655.6:n.371A=
ENST00000485708.7:n.371A=
ENST00000613865.5:c.332A=	ENSP00000478869.2:p.Lys111=
ENST00000645195.1:c.208A=
ENST00000645440.1:c.332A=	ENSP00000496738.1:p.Lys111=
ENST00000645698.1:n.360A=
ENST00000360830.8:c.332A=	ENSP00000354074.4:p.Lys111=
ENST00000372360.7:c.332A=	ENSP00000361435.3:p.Lys111=
ENST00000435275.5:c.332A=	ENSP00000415549.1:p.Lys111=
ENST00000440692.5:c.332A=	ENSP00000414321.1:p.Lys111=
ENST00000464716.5:n.360A=
ENST00000465692.1:n.329A=
ENST00000476545.5:n.356A=
ENST00000478655.5:n.371A=
ENST00000482069.5:n.399A=
ENST00000485708.6:n.390A=
ENST00000613865.4:c.332A=	ENSP00000478869.1:p.Lys111=
NM_001026.4:c.332A=	NP_001017.1:p.Lys111=
NM_001142282.1:c.332A=	NP_001135754.1:p.Lys111=
NM_001142283.1:c.332A=	NP_001135755.1:p.Lys111=
NM_001142284.1:c.332A=	NP_001135756.1:p.Lys111=
NM_001142285.1:c.332A=	NP_001135757.1:p.Lys111=
NM_033022.3:c.332A=	NP_148982.1:p.Lys111=
XM_011540034.1:c.485A=	XP_011538336.1:p.Lys162=
XM_011540035.1:c.485A=	XP_011538337.1:p.Lys162=
XM_011540036.1:c.485A=	XP_011538338.1:p.Lys162=
XM_011540037.1:c.485A=	XP_011538339.1:p.Lys162=
XM_011540038.1:c.485A=	XP_011538340.1:p.Lys162=
NM_001142285.2:c.332A=	NP_001135757.1:p.Lys111=
NM_033022.4:c.332A= MANE Select	NP_148982.1:p.Lys111=
NM_001026.5:c.332A=	NP_001017.1:p.Lys111=
NM_001142282.2:c.332A=	NP_001135754.1:p.Lys111=
NM_001142283.2:c.332A=	NP_001135755.1:p.Lys111=
NM_001142284.2:c.332A=	NP_001135756.1:p.Lys111=