Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128254G>A , CM000682.2:g.46128254G>A	GRCh38
NC_000020.10:g.44756893G>A , CM000682.1:g.44756893G>A	GRCh37
NC_000020.9:g.44190300G>A	NCBI36
NG_007279.1:g.14988G>A , LRG_40:g.14988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.648+30G>A	ENSP00000512095.1:n.648+30G>A
ENST00000489304.6:c.729+30G>A	ENSP00000512096.1:n.729+30G>A
ENST00000695670.1:n.627+18G>A
ENST00000695671.1:c.686+30G>A	ENSP00000512093.1:n.686+30G>A
ENST00000695674.1:n.1125+30G>A
ENST00000695675.1:n.2522+30G>A
ENST00000372285.8:c.646+30G>A MANE Select	ENSP00000361359.3:n.646+30G>A
ENST00000372276.7:c.584+30G>A	ENSP00000361350.3:n.584+30G>A
ENST00000372285.7:c.646+30G>A	ENSP00000361359.3:n.646+30G>A
ENST00000466205.5:c.548+30G>A
ENST00000477696.5:n.619+30G>A
ENST00000489304.5:n.722+30G>A
ENST00000620709.4:c.*193+30G>A	ENSP00000484074.1:n.*193+30G>A
NM_001250.5:c.646+30G>A	NP_001241.1:n.646+30G>A
NM_001302753.1:c.686+30G>A	NP_001289682.1:n.686+30G>A
NM_152854.3:c.584+30G>A	NP_690593.1:n.584+30G>A
NR_126502.1:n.739+30G>A
XM_005260617.2:c.658+18G>A	XP_005260674.1:n.658+18G>A
XM_005260619.2:c.502+18G>A	XP_005260676.1:n.502+18G>A
XR_936660.1:n.646+30G>A
NM_001322421.1:c.658+18G>A	NP_001309350.1:n.658+18G>A
NM_001322422.1:c.490+30G>A	NP_001309351.1:n.490+30G>A
NM_001362758.1:c.646+30G>A	NP_001349687.1:n.646+30G>A
NR_136327.1:n.642+30G>A
XM_005260619.3:c.502+18G>A	XP_005260676.1:n.502+18G>A
XM_017028135.1:c.686+30G>A	XP_016883624.1:n.686+30G>A
XM_017028136.1:c.584+30G>A	XP_016883625.1:n.584+30G>A
NM_001250.6:c.646+30G>A MANE Select	NP_001241.1:n.646+30G>A
NM_001302753.2:c.686+30G>A	NP_001289682.1:n.686+30G>A
NM_001322421.2:c.658+18G>A	NP_001309350.1:n.658+18G>A
NM_001322422.2:c.490+30G>A	NP_001309351.1:n.490+30G>A
NM_001362758.2:c.646+30G>A	NP_001349687.1:n.646+30G>A
NM_152854.4:c.584+30G>A	NP_690593.1:n.584+30G>A
NR_126502.2:n.679+30G>A
NR_136327.2:n.582+30G>A

Linked Data

Genomic Alleles

Transcript Alleles