Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551923A>T , CM000664.2:g.85551923A>T	GRCh38
NC_000002.11:g.85779046A>T , CM000664.1:g.85779046A>T	GRCh37
NC_000002.10:g.85632557A>T	NCBI36
NG_011811.2:g.14612T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5976T>A
ENST00000482662.2:n.4383T>A
ENST00000685865.1:n.2335T>A
ENST00000687250.1:n.2035T>A
ENST00000687995.1:n.1850T>A
ENST00000688205.1:c.*1091T>A	ENSP00000509673.1:n.*1091T>A
ENST00000688788.1:n.1737T>A
ENST00000689276.1:c.1429T>A	ENSP00000510012.1:p.Ser477Thr
ENST00000689576.1:c.*117T>A	ENSP00000508712.1:n.*117T>A
ENST00000690108.1:c.*1154T>A	ENSP00000510617.1:n.*1154T>A
ENST00000690468.1:c.*50T>A	ENSP00000509078.1:n.*50T>A
ENST00000690595.1:c.823T>A	ENSP00000508979.1:p.Ser275Thr
ENST00000691348.1:c.*50T>A	ENSP00000509369.1:n.*50T>A
ENST00000691410.1:c.*1075T>A	ENSP00000508479.1:n.*1075T>A
ENST00000693287.1:c.814T>A	ENSP00000510264.1:p.Ser272Thr
ENST00000693681.1:c.811T>A	ENSP00000510789.1:p.Ser271Thr
ENST00000233838.9:c.1498T>A MANE Select	ENSP00000233838.3:p.Ser500Thr
ENST00000233838.8:c.1498T>A	ENSP00000233838.3:p.Ser500Thr
ENST00000430215.7:c.1327T>A	ENSP00000408045.3:p.Ser443Thr
ENST00000465637.5:n.179-3919T>A
NM_000821.5:c.1498T>A	NP_000812.2:p.Ser500Thr
NM_000821.6:c.1498T>A	NP_000812.2:p.Ser500Thr
NM_001142269.2:c.1327T>A	NP_001135741.1:p.Ser443Thr
NM_001142269.3:c.1327T>A	NP_001135741.1:p.Ser443Thr
XM_005264259.3:c.1498T>A	XP_005264316.1:p.Ser500Thr
XM_011532764.1:c.676T>A	XP_011531066.1:p.Ser226Thr
XM_011532765.1:c.676T>A	XP_011531067.1:p.Ser226Thr
XR_939677.1:n.1411T>A
XM_005264259.5:c.1498T>A	XP_005264316.1:p.Ser500Thr
XM_011532764.3:c.676T>A	XP_011531066.1:p.Ser226Thr
XM_011532765.3:c.676T>A	XP_011531067.1:p.Ser226Thr
XM_017003803.2:c.1327T>A	XP_016859292.1:p.Ser443Thr
XR_001738703.2:n.1411T>A
NM_000821.7:c.1498T>A MANE Select	NP_000812.2:p.Ser500Thr
NM_001142269.4:c.1327T>A	NP_001135741.1:p.Ser443Thr

Linked Data

Genomic Alleles

Transcript Alleles