Canonical Allele Identifier: CA385037449

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701491A>T (hg19) ; chr12:g.53307707A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307707A>T , CM000674.2:g.53307707A>T	GRCh38
NC_000012.11:g.53701491A>T , CM000674.1:g.53701491A>T	GRCh37
NC_000012.10:g.51987758A>T	NCBI36
NG_016775.1:g.18922T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1423T>A MANE Select	ENSP00000209873.4:p.Ser475Thr
ENST00000546562.6:n.2487T>A
ENST00000547238.6:n.2059T>A
ENST00000547520.6:n.1539T>A
ENST00000547757.2:c.*341T>A	ENSP00000448020.2:n.*341T>A
ENST00000548880.2:n.1873T>A
ENST00000548931.6:c.858T>A	ENSP00000457518.1:p.Gly286=
ENST00000549450.6:n.1357T>A
ENST00000552161.6:n.2501T>A
ENST00000672797.1:n.1912T>A
ENST00000209873.8:c.1423T>A	ENSP00000209873.4:p.Ser475Thr
ENST00000394384.7:c.1324T>A	ENSP00000377908.3:p.Ser442Thr
ENST00000548931.5:c.858T>A	ENSP00000457518.1:p.Gly286=
ENST00000550286.5:c.1051T>A	ENSP00000446885.1:p.Ser351Thr
ENST00000552876.5:n.1766T>A
NM_001173466.1:c.1324T>A	NP_001166937.1:p.Ser442Thr
NM_015665.5:c.1423T>A	NP_056480.1:p.Ser475Thr
XM_006719617.2:c.1438T>A	XP_006719680.1:p.Ser480Thr
XM_011538777.1:c.1480T>A	XP_011537079.1:p.Ser494Thr
XM_011538778.1:c.1465T>A	XP_011537080.1:p.Ser489Thr
XM_011538779.1:c.1381T>A	XP_011537081.1:p.Ser461Thr
XM_011538780.1:c.1366T>A	XP_011537082.1:p.Ser456Thr
XM_011538781.1:c.814T>A	XP_011537083.1:p.Ser272Thr
XM_011538778.2:c.1465T>A	XP_011537080.1:p.Ser489Thr
XM_011538780.2:c.1366T>A	XP_011537082.1:p.Ser456Thr
XR_001748875.2:n.1480T>A
NM_015665.6:c.1423T>A MANE Select	NP_056480.1:p.Ser475Thr
NM_001173466.2:c.1324T>A	NP_001166937.1:p.Ser442Thr