Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3673846G= , CM000682.2:g.3673846G=	GRCh38
NC_000020.10:g.3654493G= , CM000682.1:g.3654493G=	GRCh37
NC_000020.9:g.3602493G=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.804C= MANE Select	ENSP00000348912.3:p.Arg268=
ENST00000350009.6:c.804C=	ENSP00000322550.5:p.Arg268=
ENST00000356518.6:c.804C=	ENSP00000348912.2:p.Arg268=
ENST00000379861.8:c.804C=	ENSP00000369190.4:p.Arg268=
ENST00000617732.1:c.*631+466C=	ENSP00000483343.1:n.*631+466C=
ENST00000619289.4:c.804C=	ENSP00000484600.1:p.Arg268=
NM_001282447.1:c.804C=	NP_001269376.1:p.Arg268=
NM_025220.3:c.804C=	NP_079496.1:p.Arg268=
NM_153202.2:c.804C=	NP_694882.1:p.Arg268=
XM_005260843.1:c.843C=	XP_005260900.1:p.Arg281=
XM_006723639.1:c.843C=	XP_006723702.1:p.Arg281=
XM_006723640.1:c.843C=	XP_006723703.1:p.Arg281=
XM_006723644.2:c.843C=	XP_006723707.1:p.Arg281=
XM_011529366.1:c.840C=	XP_011527668.1:p.Arg280=
XM_011529367.1:c.801C=	XP_011527669.1:p.Arg267=
XM_011529368.1:c.843C=	XP_011527670.1:p.Arg281=
XM_011529369.1:c.843C=	XP_011527671.1:p.Arg281=
XM_011529370.1:c.843C=	XP_011527672.1:p.Arg281=
XM_011529371.1:c.843C=	XP_011527673.1:p.Arg281=
XM_011529372.1:c.843C=	XP_011527674.1:p.Arg281=
XM_011529373.1:c.-237C=	XP_011527675.1:n.-237C=
XR_937151.1:n.947C=
XR_937152.1:n.947C=
XR_937153.1:n.947C=
XR_937154.1:n.947C=
XR_937155.1:n.868C=
XR_937157.1:n.947C=
NM_001282447.2:c.804C=	NP_001269376.1:p.Arg268=
NM_025220.4:c.804C=	NP_079496.1:p.Arg268=
NM_153202.3:c.804C=	NP_694882.1:p.Arg268=
XM_011529371.2:c.843C=	XP_011527673.1:p.Arg281=
XM_011529373.2:c.-237C=	XP_011527675.1:n.-237C=
XM_017028080.2:c.843C=	XP_016883569.1:p.Arg281=
XM_017028081.2:c.804C=	XP_016883570.1:p.Arg268=
XM_017028082.1:c.843C=	XP_016883571.1:p.Arg281=
XM_017028083.1:c.843C=	XP_016883572.1:p.Arg281=
XR_001754405.1:n.947C=
XR_002958534.1:n.947C=
NM_001282447.3:c.804C=	NP_001269376.1:p.Arg268=
NM_025220.5:c.804C= MANE Select	NP_079496.1:p.Arg268=
NM_153202.4:c.804C=	NP_694882.1:p.Arg268=