Canonical Allele Identifier: CA385041433

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702794C>T (hg19) ; chr12:g.53309010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309010C>T , CM000674.2:g.53309010C>T	GRCh38
NC_000012.11:g.53702794C>T , CM000674.1:g.53702794C>T	GRCh37
NC_000012.10:g.51989061C>T	NCBI36
NG_016775.1:g.17619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.946G>A MANE Select	ENSP00000209873.4:p.Ala316Thr
ENST00000546393.7:n.1791G>A
ENST00000546562.6:n.2010G>A
ENST00000547238.6:n.1582G>A
ENST00000547520.6:n.940G>A
ENST00000547757.2:c.-6G>A	ENSP00000448020.2:n.-6G>A
ENST00000548880.2:n.1396G>A
ENST00000548931.6:c.466G>A	ENSP00000457518.1:p.Ala156Thr
ENST00000549450.6:n.880G>A
ENST00000552161.6:n.1902G>A
ENST00000672797.1:n.1399G>A
ENST00000672900.1:n.1744G>A
ENST00000209873.8:c.946G>A	ENSP00000209873.4:p.Ala316Thr
ENST00000394384.7:c.847G>A	ENSP00000377908.3:p.Ala283Thr
ENST00000546572.1:n.534G>A
ENST00000547520.5:n.650G>A
ENST00000548931.5:c.466G>A	ENSP00000457518.1:p.Ala156Thr
ENST00000550033.5:n.201G>A
ENST00000550286.5:c.574G>A	ENSP00000446885.1:p.Ala192Thr
ENST00000552876.5:n.1289G>A
NM_001173466.1:c.847G>A	NP_001166937.1:p.Ala283Thr
NM_015665.5:c.946G>A	NP_056480.1:p.Ala316Thr
XM_006719617.2:c.961G>A	XP_006719680.1:p.Ala321Thr
XM_006719619.2:c.961G>A	XP_006719682.1:p.Ala321Thr
XM_011538777.1:c.961G>A	XP_011537079.1:p.Ala321Thr
XM_011538778.1:c.946G>A	XP_011537080.1:p.Ala316Thr
XM_011538779.1:c.862G>A	XP_011537081.1:p.Ala288Thr
XM_011538780.1:c.847G>A	XP_011537082.1:p.Ala283Thr
XM_011538781.1:c.295G>A	XP_011537083.1:p.Ala99Thr
XM_011538778.2:c.946G>A	XP_011537080.1:p.Ala316Thr
XM_011538780.2:c.847G>A	XP_011537082.1:p.Ala283Thr
XR_001748875.2:n.967G>A
NM_015665.6:c.946G>A MANE Select	NP_056480.1:p.Ala316Thr
NM_001173466.2:c.847G>A	NP_001166937.1:p.Ala283Thr