Canonical Allele Identifier: CA479918509

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702762A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308978A>T , CM000674.2:g.53308978A>T	GRCh38
NC_000012.11:g.53702762A>T , CM000674.1:g.53702762A>T	GRCh37
NC_000012.10:g.51989029A>T	NCBI36
NG_016775.1:g.17651T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.978T>A MANE Select	ENSP00000209873.4:p.Thr326=
ENST00000546393.7:n.1823T>A
ENST00000546562.6:n.2042T>A
ENST00000547238.6:n.1614T>A
ENST00000547520.6:n.972T>A
ENST00000547757.2:c.27T>A	ENSP00000448020.2:p.Thr9=
ENST00000548880.2:n.1428T>A
ENST00000548931.6:c.498T>A	ENSP00000457518.1:p.Thr166=
ENST00000549450.6:n.912T>A
ENST00000552161.6:n.1934T>A
ENST00000672797.1:n.1431T>A
ENST00000672900.1:n.1776T>A
ENST00000209873.8:c.978T>A	ENSP00000209873.4:p.Thr326=
ENST00000394384.7:c.879T>A	ENSP00000377908.3:p.Thr293=
ENST00000546572.1:n.566T>A
ENST00000547520.5:n.682T>A
ENST00000548931.5:c.498T>A	ENSP00000457518.1:p.Thr166=
ENST00000550033.5:n.233T>A
ENST00000550286.5:c.606T>A	ENSP00000446885.1:p.Thr202=
ENST00000552876.5:n.1321T>A
NM_001173466.1:c.879T>A	NP_001166937.1:p.Thr293=
NM_015665.5:c.978T>A	NP_056480.1:p.Thr326=
XM_006719617.2:c.993T>A	XP_006719680.1:p.Thr331=
XM_006719619.2:c.993T>A	XP_006719682.1:p.Thr331=
XM_011538777.1:c.993T>A	XP_011537079.1:p.Thr331=
XM_011538778.1:c.978T>A	XP_011537080.1:p.Thr326=
XM_011538779.1:c.894T>A	XP_011537081.1:p.Thr298=
XM_011538780.1:c.879T>A	XP_011537082.1:p.Thr293=
XM_011538781.1:c.327T>A	XP_011537083.1:p.Thr109=
XM_011538778.2:c.978T>A	XP_011537080.1:p.Thr326=
XM_011538780.2:c.879T>A	XP_011537082.1:p.Thr293=
XR_001748875.2:n.999T>A
NM_015665.6:c.978T>A MANE Select	NP_056480.1:p.Thr326=
NM_001173466.2:c.879T>A	NP_001166937.1:p.Thr293=