Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32089397T= , CM000664.2:g.32089397T=	GRCh38
NC_000002.11:g.32314466T= , CM000664.1:g.32314466T=	GRCh37
NC_000002.10:g.32167970T=	NCBI36
NG_008730.1:g.30787T= , LRG_714:g.30787T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*163-125T=	ENSP00000515816.1:n.*163-125T=
ENST00000315285.9:c.503-125T= MANE Select	ENSP00000320885.3:n.503-125T=
ENST00000621856.2:c.500-125T=	ENSP00000482496.2:n.500-125T=
ENST00000642281.1:c.387-125T=
ENST00000642455.1:c.500-125T=	ENSP00000493827.1:n.500-125T=
ENST00000642751.1:c.373-125T=
ENST00000642999.1:c.245-125T=	ENSP00000496589.1:n.245-125T=
ENST00000643334.1:c.88-125T=
ENST00000644408.1:c.379-125T=
ENST00000644954.1:c.245-125T=	ENSP00000494312.1:n.245-125T=
ENST00000645400.1:c.459-125T=	ENSP00000496306.1:n.459-125T=
ENST00000645671.1:c.37-9399T=
ENST00000646082.1:c.337-125T=
ENST00000646571.1:c.503-125T=	ENSP00000495015.1:n.503-125T=
ENST00000647007.1:n.200-125T=
ENST00000647133.1:c.78-125T=
ENST00000315285.7:c.503-125T=	ENSP00000320885.3:n.503-125T=
ENST00000345662.5:c.503-125T=	ENSP00000340817.1:n.503-125T=
ENST00000615843.4:c.503-125T=	ENSP00000480893.1:n.503-125T=
ENST00000621856.1:c.245-125T=	ENSP00000482496.1:n.245-125T=
NM_014946.3:c.503-125T= , LRG_714t1:c.503-125T=	NP_055761.2:n.503-125T=
NM_199436.1:c.503-125T=	NP_955468.1:n.503-125T=
XM_005264516.3:c.500-125T=	XP_005264573.1:n.500-125T=
XM_011533067.1:c.503-125T=	XP_011531369.1:n.503-125T=
NM_001363823.1:c.500-125T=	NP_001350752.1:n.500-125T=
NM_001363875.1:c.500-125T=	NP_001350804.1:n.500-125T=
XM_005264516.5:c.500-125T=	XP_005264573.1:n.500-125T=
XM_011533067.2:c.503-125T=	XP_011531369.1:n.503-125T=
XM_017004778.2:c.503-125T=	XP_016860267.1:n.503-125T=
NM_001363823.2:c.500-125T=	NP_001350752.1:n.500-125T=
NM_001363875.2:c.500-125T=	NP_001350804.1:n.500-125T=
NM_001377959.1:c.503-125T=	NP_001364888.1:n.503-125T=
NM_014946.4:c.503-125T= MANE Select	NP_055761.2:n.503-125T=
NM_199436.2:c.503-125T=	NP_955468.1:n.503-125T=