Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122518G= , CM000682.2:g.46122518G=	GRCh38
NC_000020.10:g.44751157G= , CM000682.1:g.44751157G=	GRCh37
NC_000020.9:g.44184564G=	NCBI36
NG_007279.1:g.9252G= , LRG_40:g.9252G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.353-92G=	ENSP00000512095.1:n.353-92G=
ENST00000489304.6:c.257-92G=	ENSP00000512096.1:n.257-92G=
ENST00000695669.1:n.330-92G=
ENST00000695670.1:n.237-92G=
ENST00000695671.1:c.257-92G=	ENSP00000512093.1:n.257-92G=
ENST00000695672.1:n.182-92G=
ENST00000695673.1:n.122-92G=
ENST00000372285.8:c.257-92G= MANE Select	ENSP00000361359.3:n.257-92G=
ENST00000372276.7:c.257-92G=	ENSP00000361350.3:n.257-92G=
ENST00000372285.7:c.257-92G=	ENSP00000361359.3:n.257-92G=
ENST00000461171.1:n.42-92G=
ENST00000466205.5:c.253-92G=
ENST00000477696.5:n.324-92G=
ENST00000489304.5:n.250-92G=
ENST00000620709.4:c.257-92G=	ENSP00000484074.1:n.257-92G=
NM_001250.5:c.257-92G=	NP_001241.1:n.257-92G=
NM_001302753.1:c.257-92G=	NP_001289682.1:n.257-92G=
NM_152854.3:c.257-92G=	NP_690593.1:n.257-92G=
NR_126502.1:n.347-92G=
XM_005260617.2:c.257-92G=	XP_005260674.1:n.257-92G=
XM_005260619.2:c.257-92G=	XP_005260676.1:n.257-92G=
XM_011529109.1:c.257-92G=	XP_011527411.1:n.257-92G=
XR_936660.1:n.351-92G=
NM_001322421.1:c.257-92G=	NP_001309350.1:n.257-92G=
NM_001322422.1:c.257-92G=	NP_001309351.1:n.257-92G=
NM_001362758.1:c.257-92G=	NP_001349687.1:n.257-92G=
NR_136327.1:n.347-92G=
XM_005260619.3:c.257-92G=	XP_005260676.1:n.257-92G=
XM_011529109.2:c.257-92G=	XP_011527411.1:n.257-92G=
XM_017028135.1:c.257-92G=	XP_016883624.1:n.257-92G=
XM_017028136.1:c.257-92G=	XP_016883625.1:n.257-92G=
NM_001250.6:c.257-92G= MANE Select	NP_001241.1:n.257-92G=
NM_001302753.2:c.257-92G=	NP_001289682.1:n.257-92G=
NM_001322421.2:c.257-92G=	NP_001309350.1:n.257-92G=
NM_001322422.2:c.257-92G=	NP_001309351.1:n.257-92G=
NM_001362758.2:c.257-92G=	NP_001349687.1:n.257-92G=
NM_152854.4:c.257-92G=	NP_690593.1:n.257-92G=
NR_126502.2:n.287-92G=
NR_136327.2:n.287-92G=