Canonical Allele Identifier: CA385034465

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701284A>T (hg19) ; chr12:g.53307500A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307500A>T , CM000674.2:g.53307500A>T	GRCh38
NC_000012.11:g.53701284A>T , CM000674.1:g.53701284A>T	GRCh37
NC_000012.10:g.51987551A>T	NCBI36
NG_016775.1:g.19129T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1630T>A MANE Select	ENSP00000209873.4:p.Ser544Thr
ENST00000547757.2:c.*548T>A	ENSP00000448020.2:n.*548T>A
ENST00000548931.6:c.1065T>A	ENSP00000457518.1:p.Ile355=
ENST00000549450.6:n.1564T>A
ENST00000209873.8:c.1630T>A	ENSP00000209873.4:p.Ser544Thr
ENST00000394384.7:c.1531T>A	ENSP00000377908.3:p.Ser511Thr
ENST00000548931.5:c.1065T>A	ENSP00000457518.1:p.Ile355=
ENST00000550286.5:c.1258T>A	ENSP00000446885.1:p.Ser420Thr
ENST00000552876.5:n.1973T>A
NM_001173466.1:c.1531T>A	NP_001166937.1:p.Ser511Thr
NM_015665.5:c.1630T>A	NP_056480.1:p.Ser544Thr
XM_006719617.2:c.1645T>A	XP_006719680.1:p.Ser549Thr
XM_011538777.1:c.1687T>A	XP_011537079.1:p.Ser563Thr
XM_011538778.1:c.1672T>A	XP_011537080.1:p.Ser558Thr
XM_011538779.1:c.1588T>A	XP_011537081.1:p.Ser530Thr
XM_011538780.1:c.1573T>A	XP_011537082.1:p.Ser525Thr
XM_011538781.1:c.1021T>A	XP_011537083.1:p.Ser341Thr
XM_011538778.2:c.1672T>A	XP_011537080.1:p.Ser558Thr
XM_011538780.2:c.1573T>A	XP_011537082.1:p.Ser525Thr
XR_001748875.2:n.1687T>A
NM_015665.6:c.1630T>A MANE Select	NP_056480.1:p.Ser544Thr
NM_001173466.2:c.1531T>A	NP_001166937.1:p.Ser511Thr