Canonical Allele Identifier: CA385037125

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1453T>A MANE Select	ENSP00000209873.4:p.Tyr485Asn
ENST00000546562.6:n.2517T>A
ENST00000547238.6:n.2089T>A
ENST00000547520.6:n.1569T>A
ENST00000547757.2:c.*371T>A	ENSP00000448020.2:n.*371T>A
ENST00000548880.2:n.1903T>A
ENST00000548931.6:c.888T>A	ENSP00000457518.1:p.Cys296Ter
ENST00000549450.6:n.1387T>A
ENST00000552161.6:n.2531T>A
ENST00000672797.1:n.1942T>A
ENST00000209873.8:c.1453T>A	ENSP00000209873.4:p.Tyr485Asn
ENST00000394384.7:c.1354T>A	ENSP00000377908.3:p.Tyr452Asn
ENST00000548931.5:c.888T>A	ENSP00000457518.1:p.Cys296Ter
ENST00000550286.5:c.1081T>A	ENSP00000446885.1:p.Tyr361Asn
ENST00000552876.5:n.1796T>A
NM_001173466.1:c.1354T>A	NP_001166937.1:p.Tyr452Asn
NM_015665.5:c.1453T>A	NP_056480.1:p.Tyr485Asn
XM_006719617.2:c.1468T>A	XP_006719680.1:p.Tyr490Asn
XM_011538777.1:c.1510T>A	XP_011537079.1:p.Tyr504Asn
XM_011538778.1:c.1495T>A	XP_011537080.1:p.Tyr499Asn
XM_011538779.1:c.1411T>A	XP_011537081.1:p.Tyr471Asn
XM_011538780.1:c.1396T>A	XP_011537082.1:p.Tyr466Asn
XM_011538781.1:c.844T>A	XP_011537083.1:p.Tyr282Asn
XM_011538778.2:c.1495T>A	XP_011537080.1:p.Tyr499Asn
XM_011538780.2:c.1396T>A	XP_011537082.1:p.Tyr466Asn
XR_001748875.2:n.1510T>A
NM_015665.6:c.1453T>A MANE Select	NP_056480.1:p.Tyr485Asn
NM_001173466.2:c.1354T>A	NP_001166937.1:p.Tyr452Asn