Canonical Allele Identifier: CA385034988

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701355T>A (hg19) ; chr12:g.53307571T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307571T>A , CM000674.2:g.53307571T>A	GRCh38
NC_000012.11:g.53701355T>A , CM000674.1:g.53701355T>A	GRCh37
NC_000012.10:g.51987622T>A	NCBI36
NG_016775.1:g.19058A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1559A>T MANE Select	ENSP00000209873.4:p.Glu520Val
ENST00000546562.6:n.2623A>T
ENST00000547238.6:n.2195A>T
ENST00000547520.6:n.1675A>T
ENST00000547757.2:c.*477A>T	ENSP00000448020.2:n.*477A>T
ENST00000548931.6:c.994A>T	ENSP00000457518.1:p.Arg332Ter
ENST00000549450.6:n.1493A>T
ENST00000672797.1:n.2048A>T
ENST00000209873.8:c.1559A>T	ENSP00000209873.4:p.Glu520Val
ENST00000394384.7:c.1460A>T	ENSP00000377908.3:p.Glu487Val
ENST00000548931.5:c.994A>T	ENSP00000457518.1:p.Arg332Ter
ENST00000550286.5:c.1187A>T	ENSP00000446885.1:p.Glu396Val
ENST00000552876.5:n.1902A>T
NM_001173466.1:c.1460A>T	NP_001166937.1:p.Glu487Val
NM_015665.5:c.1559A>T	NP_056480.1:p.Glu520Val
XM_006719617.2:c.1574A>T	XP_006719680.1:p.Glu525Val
XM_011538777.1:c.1616A>T	XP_011537079.1:p.Glu539Val
XM_011538778.1:c.1601A>T	XP_011537080.1:p.Glu534Val
XM_011538779.1:c.1517A>T	XP_011537081.1:p.Glu506Val
XM_011538780.1:c.1502A>T	XP_011537082.1:p.Glu501Val
XM_011538781.1:c.950A>T	XP_011537083.1:p.Glu317Val
XM_011538778.2:c.1601A>T	XP_011537080.1:p.Glu534Val
XM_011538780.2:c.1502A>T	XP_011537082.1:p.Glu501Val
XR_001748875.2:n.1616A>T
NM_015665.6:c.1559A>T MANE Select	NP_056480.1:p.Glu520Val
NM_001173466.2:c.1460A>T	NP_001166937.1:p.Glu487Val