Canonical Allele Identifier: CA385037122

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701461A>G (hg19) ; chr12:g.53307677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307677A>G , CM000674.2:g.53307677A>G	GRCh38
NC_000012.11:g.53701461A>G , CM000674.1:g.53701461A>G	GRCh37
NC_000012.10:g.51987728A>G	NCBI36
NG_016775.1:g.18952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1453T>C MANE Select	ENSP00000209873.4:p.Tyr485His
ENST00000546562.6:n.2517T>C
ENST00000547238.6:n.2089T>C
ENST00000547520.6:n.1569T>C
ENST00000547757.2:c.*371T>C	ENSP00000448020.2:n.*371T>C
ENST00000548880.2:n.1903T>C
ENST00000548931.6:c.888T>C	ENSP00000457518.1:p.Cys296=
ENST00000549450.6:n.1387T>C
ENST00000552161.6:n.2531T>C
ENST00000672797.1:n.1942T>C
ENST00000209873.8:c.1453T>C	ENSP00000209873.4:p.Tyr485His
ENST00000394384.7:c.1354T>C	ENSP00000377908.3:p.Tyr452His
ENST00000548931.5:c.888T>C	ENSP00000457518.1:p.Cys296=
ENST00000550286.5:c.1081T>C	ENSP00000446885.1:p.Tyr361His
ENST00000552876.5:n.1796T>C
NM_001173466.1:c.1354T>C	NP_001166937.1:p.Tyr452His
NM_015665.5:c.1453T>C	NP_056480.1:p.Tyr485His
XM_006719617.2:c.1468T>C	XP_006719680.1:p.Tyr490His
XM_011538777.1:c.1510T>C	XP_011537079.1:p.Tyr504His
XM_011538778.1:c.1495T>C	XP_011537080.1:p.Tyr499His
XM_011538779.1:c.1411T>C	XP_011537081.1:p.Tyr471His
XM_011538780.1:c.1396T>C	XP_011537082.1:p.Tyr466His
XM_011538781.1:c.844T>C	XP_011537083.1:p.Tyr282His
XM_011538778.2:c.1495T>C	XP_011537080.1:p.Tyr499His
XM_011538780.2:c.1396T>C	XP_011537082.1:p.Tyr466His
XR_001748875.2:n.1510T>C
NM_015665.6:c.1453T>C MANE Select	NP_056480.1:p.Tyr485His
NM_001173466.2:c.1354T>C	NP_001166937.1:p.Tyr452His