Canonical Allele Identifier: CA385036817

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701431T>G (hg19) ; chr12:g.53307647T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307647T>G , CM000674.2:g.53307647T>G	GRCh38
NC_000012.11:g.53701431T>G , CM000674.1:g.53701431T>G	GRCh37
NC_000012.10:g.51987698T>G	NCBI36
NG_016775.1:g.18982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1483A>C MANE Select	ENSP00000209873.4:p.Ser495Arg
ENST00000546562.6:n.2547A>C
ENST00000547238.6:n.2119A>C
ENST00000547520.6:n.1599A>C
ENST00000547757.2:c.*401A>C	ENSP00000448020.2:n.*401A>C
ENST00000548880.2:n.1933A>C
ENST00000548931.6:c.918A>C	ENSP00000457518.1:p.Leu306Phe
ENST00000549450.6:n.1417A>C
ENST00000552161.6:n.2561A>C
ENST00000672797.1:n.1972A>C
ENST00000209873.8:c.1483A>C	ENSP00000209873.4:p.Ser495Arg
ENST00000394384.7:c.1384A>C	ENSP00000377908.3:p.Ser462Arg
ENST00000548931.5:c.918A>C	ENSP00000457518.1:p.Leu306Phe
ENST00000550286.5:c.1111A>C	ENSP00000446885.1:p.Ser371Arg
ENST00000552876.5:n.1826A>C
NM_001173466.1:c.1384A>C	NP_001166937.1:p.Ser462Arg
NM_015665.5:c.1483A>C	NP_056480.1:p.Ser495Arg
XM_006719617.2:c.1498A>C	XP_006719680.1:p.Ser500Arg
XM_011538777.1:c.1540A>C	XP_011537079.1:p.Ser514Arg
XM_011538778.1:c.1525A>C	XP_011537080.1:p.Ser509Arg
XM_011538779.1:c.1441A>C	XP_011537081.1:p.Ser481Arg
XM_011538780.1:c.1426A>C	XP_011537082.1:p.Ser476Arg
XM_011538781.1:c.874A>C	XP_011537083.1:p.Ser292Arg
XM_011538778.2:c.1525A>C	XP_011537080.1:p.Ser509Arg
XM_011538780.2:c.1426A>C	XP_011537082.1:p.Ser476Arg
XR_001748875.2:n.1540A>C
NM_015665.6:c.1483A>C MANE Select	NP_056480.1:p.Ser495Arg
NM_001173466.2:c.1384A>C	NP_001166937.1:p.Ser462Arg