Canonical Allele Identifier: CA385035328

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701406T>G (hg19) ; chr12:g.53307622T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307622T>G , CM000674.2:g.53307622T>G	GRCh38
NC_000012.11:g.53701406T>G , CM000674.1:g.53701406T>G	GRCh37
NC_000012.10:g.51987673T>G	NCBI36
NG_016775.1:g.19007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1508A>C MANE Select	ENSP00000209873.4:p.Glu503Ala
ENST00000546562.6:n.2572A>C
ENST00000547238.6:n.2144A>C
ENST00000547520.6:n.1624A>C
ENST00000547757.2:c.*426A>C	ENSP00000448020.2:n.*426A>C
ENST00000548931.6:c.943A>C	ENSP00000457518.1:p.Asn315His
ENST00000549450.6:n.1442A>C
ENST00000672797.1:n.1997A>C
ENST00000209873.8:c.1508A>C	ENSP00000209873.4:p.Glu503Ala
ENST00000394384.7:c.1409A>C	ENSP00000377908.3:p.Glu470Ala
ENST00000548931.5:c.943A>C	ENSP00000457518.1:p.Asn315His
ENST00000550286.5:c.1136A>C	ENSP00000446885.1:p.Glu379Ala
ENST00000552876.5:n.1851A>C
NM_001173466.1:c.1409A>C	NP_001166937.1:p.Glu470Ala
NM_015665.5:c.1508A>C	NP_056480.1:p.Glu503Ala
XM_006719617.2:c.1523A>C	XP_006719680.1:p.Glu508Ala
XM_011538777.1:c.1565A>C	XP_011537079.1:p.Glu522Ala
XM_011538778.1:c.1550A>C	XP_011537080.1:p.Glu517Ala
XM_011538779.1:c.1466A>C	XP_011537081.1:p.Glu489Ala
XM_011538780.1:c.1451A>C	XP_011537082.1:p.Glu484Ala
XM_011538781.1:c.899A>C	XP_011537083.1:p.Glu300Ala
XM_011538778.2:c.1550A>C	XP_011537080.1:p.Glu517Ala
XM_011538780.2:c.1451A>C	XP_011537082.1:p.Glu484Ala
XR_001748875.2:n.1565A>C
NM_015665.6:c.1508A>C MANE Select	NP_056480.1:p.Glu503Ala
NM_001173466.2:c.1409A>C	NP_001166937.1:p.Glu470Ala