Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952135T>A , CM000672.2:g.87952135T>A	GRCh38
NC_000010.10:g.89711892T>A , CM000672.1:g.89711892T>A	GRCh37
NC_000010.9:g.89701872T>A	NCBI36
NG_007466.2:g.93697T>A , LRG_311:g.93697T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.510T>A	ENSP00000514759.2:p.Ser170Arg
ENST00000710265.1:c.510T>A	ENSP00000518161.1:p.Ser170Arg
ENST00000472832.3:c.510T>A	ENSP00000483066.2:p.Ser170Arg
ENST00000688158.2:n.1245T>A
ENST00000688922.2:c.*340T>A	ENSP00000508742.2:n.*340T>A
ENST00000700021.1:c.465T>A	ENSP00000514757.1:p.Ser155Arg
ENST00000700022.1:c.493-5718T>A	ENSP00000514758.1:n.493-5718T>A
ENST00000700023.1:n.1668T>A
ENST00000700024.1:n.1902T>A
ENST00000700025.1:n.1279T>A
ENST00000700029.1:c.344T>A
ENST00000706954.1:c.510T>A	ENSP00000516674.1:p.Ser170Arg
ENST00000706955.1:c.*545T>A	ENSP00000516675.1:n.*545T>A
ENST00000686459.1:c.*96T>A	ENSP00000508909.1:n.*96T>A
ENST00000688158.1:c.*621T>A	ENSP00000509254.1:n.*621T>A
ENST00000688308.1:c.510T>A	ENSP00000508752.1:p.Ser170Arg
ENST00000688922.1:c.431T>A
ENST00000693560.1:c.1029T>A	ENSP00000509861.1:p.Ser343Arg
ENST00000371953.8:c.510T>A MANE Select	ENSP00000361021.3:p.Ser170Arg
ENST00000371953.7:c.510T>A	ENSP00000361021.3:p.Ser170Arg
NM_000314.5:c.510T>A	NP_000305.3:p.Ser170Arg
NM_000314.6:c.510T>A	NP_000305.3:p.Ser170Arg
NM_001304717.2:c.1029T>A	NP_001291646.2:p.Ser343Arg
NM_001304718.1:c.-82T>A	NP_001291647.1:n.-82T>A
XM_006717926.2:c.465T>A	XP_006717989.1:p.Ser155Arg
XM_011539981.1:c.510T>A	XP_011538283.1:p.Ser170Arg
XM_011539982.1:c.414T>A	XP_011538284.1:p.Ser138Arg
XR_945789.1:n.1381T>A
XR_945790.1:n.1498T>A
XR_945791.1:n.1205-5718T>A
NM_000314.7:c.510T>A	NP_000305.3:p.Ser170Arg
NM_001304717.5:c.1029T>A	NP_001291646.4:p.Ser343Arg
NM_001304718.2:c.-82T>A	NP_001291647.1:n.-82T>A
NM_000314.8:c.510T>A MANE Select	NP_000305.3:p.Ser170Arg

Linked Data

Genomic Alleles

Transcript Alleles