Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46375338C>T , CM000682.2:g.46375338C>T	GRCh38
NC_000020.10:g.45003977C>T , CM000682.1:g.45003977C>T	GRCh37
NC_000020.9:g.44437384C>T	NCBI36
NG_053169.1:g.36714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290246.11:c.963G>A MANE Select	ENSP00000290246.6:p.Arg321=
ENST00000290246.10:c.963G>A	ENSP00000290246.6:p.Arg321=
ENST00000352077.6:c.957G>A	ENSP00000326172.4:p.Arg319=
ENST00000372176.5:c.699G>A	ENSP00000361249.1:p.Arg233=
ENST00000396391.5:c.963G>A	ENSP00000379673.1:p.Arg321=
ENST00000425546.5:c.327G>A	ENSP00000388962.1:p.Arg109=
ENST00000450812.5:c.963G>A	ENSP00000416181.1:p.Arg321=
ENST00000462491.5:n.327G>A
ENST00000467800.5:c.137G>A
ENST00000481852.5:n.420G>A
ENST00000488853.5:n.1040G>A
NM_133171.3:c.963G>A	NP_573403.1:p.Arg321=
NM_182764.1:c.963G>A	NP_877496.1:p.Arg321=
XM_005260496.2:c.963G>A	XP_005260553.1:p.Arg321=
XM_005260497.2:c.699G>A	XP_005260554.1:p.Arg233=
XM_005260498.2:c.699G>A	XP_005260555.1:p.Arg233=
XM_005260499.2:c.699G>A	XP_005260556.1:p.Arg233=
XM_005260500.2:c.699G>A	XP_005260557.1:p.Arg233=
XM_005260501.3:c.414G>A	XP_005260558.1:p.Arg138=
XM_005260502.3:c.414G>A	XP_005260559.1:p.Arg138=
XM_006723854.2:c.963G>A	XP_006723917.1:p.Arg321=
NM_001318253.1:c.699G>A	NP_001305182.1:p.Arg233=
NM_133171.4:c.963G>A	NP_573403.1:p.Arg321=
NM_182764.2:c.963G>A	NP_877496.1:p.Arg321=
XM_005260496.3:c.963G>A	XP_005260553.1:p.Arg321=
XM_005260498.3:c.699G>A	XP_005260555.1:p.Arg233=
XM_005260499.3:c.699G>A	XP_005260556.1:p.Arg233=
XM_005260500.3:c.699G>A	XP_005260557.1:p.Arg233=
XM_005260501.5:c.414G>A	XP_005260558.1:p.Arg138=
XM_006723854.3:c.963G>A	XP_006723917.1:p.Arg321=
XM_017028009.1:c.414G>A	XP_016883498.1:p.Arg138=
XM_017028010.1:c.414G>A	XP_016883499.1:p.Arg138=
XM_017028011.1:c.414G>A	XP_016883500.1:p.Arg138=
XM_024451961.1:c.414G>A	XP_024307729.1:p.Arg138=
NM_133171.5:c.963G>A MANE Select	NP_573403.1:p.Arg321=
NM_001318253.2:c.699G>A	NP_001305182.1:p.Arg233=
NM_182764.3:c.963G>A	NP_877496.1:p.Arg321=