Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110663500C>T , CM000675.2:g.110663500C>T	GRCh38
NC_000013.10:g.111315847C>T , CM000675.1:g.111315847C>T	GRCh37
NC_000013.9:g.110113848C>T	NCBI36
NG_042045.1:g.47681G>A
NG_042045.2:g.55102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.938G>A MANE Select	ENSP00000257347.4:p.Gly313Asp
ENST00000257347.8:c.938G>A	ENSP00000257347.4:p.Gly313Asp
ENST00000375781.9:n.276G>A
ENST00000481787.6:n.372G>A
ENST00000487253.6:c.19G>A
ENST00000535398.5:n.1130G>A
ENST00000535516.5:n.31G>A
ENST00000535615.5:n.222G>A
ENST00000537386.1:n.129G>A
ENST00000537743.1:c.204G>A
ENST00000537802.5:n.242G>A
ENST00000539405.1:n.138G>A
ENST00000540006.5:n.362G>A
ENST00000541362.5:n.229G>A
ENST00000543487.5:n.454G>A
ENST00000545506.5:n.283G>A
NM_024537.2:c.938G>A	NP_078813.1:p.Gly313Asp
NM_024537.3:c.938G>A	NP_078813.1:p.Gly313Asp
XM_006719953.2:c.599G>A	XP_006720016.1:p.Gly200Asp
XM_011521114.1:c.938G>A	XP_011519416.1:p.Gly313Asp
XM_011521115.1:c.599G>A	XP_011519417.1:p.Gly200Asp
XM_011521116.1:c.593G>A	XP_011519418.1:p.Gly198Asp
XM_011521120.1:c.152G>A	XP_011519422.1:p.Gly51Asp
XR_243047.2:n.961G>A
XR_243048.3:n.961G>A
XR_243049.3:n.961G>A
XR_243051.2:n.961G>A
NM_001352252.1:c.152G>A	NP_001339181.1:p.Gly51Asp
NM_001352253.1:c.*410G>A	NP_001339182.1:n.*410G>A
NR_147941.1:n.909G>A
NR_147942.1:n.1183G>A
XM_006719953.3:c.599G>A	XP_006720016.1:p.Gly200Asp
XM_017020741.1:c.599G>A	XP_016876230.1:p.Gly200Asp
XM_017020742.2:c.938G>A	XP_016876231.1:p.Gly313Asp
XM_024449409.1:c.152G>A	XP_024305177.1:p.Gly51Asp
XR_001749664.2:n.978G>A
XR_001749665.2:n.978G>A
XR_001749666.2:n.978G>A
XR_001749667.2:n.978G>A
XR_001749668.2:n.978G>A
XR_002957472.1:n.978G>A
XR_243047.3:n.978G>A
XR_243048.4:n.978G>A
XR_243049.4:n.978G>A
XR_243051.3:n.978G>A
NM_024537.4:c.938G>A MANE Select	NP_078813.1:p.Gly313Asp
NM_001352253.2:c.*410G>A	NP_001339182.1:n.*410G>A
NR_147942.2:n.1119G>A
NM_001352252.2:c.152G>A	NP_001339181.1:p.Gly51Asp
NM_001352253.3:c.*410G>A	NP_001339182.1:n.*410G>A