Canonical Allele Identifier: CA385034885

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701342G>T (hg19) ; chr12:g.53307558G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307558G>T , CM000674.2:g.53307558G>T	GRCh38
NC_000012.11:g.53701342G>T , CM000674.1:g.53701342G>T	GRCh37
NC_000012.10:g.51987609G>T	NCBI36
NG_016775.1:g.19071C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1572C>A MANE Select	ENSP00000209873.4:p.Thr524=
ENST00000546562.6:n.2636C>A
ENST00000547238.6:n.2208C>A
ENST00000547520.6:n.1688C>A
ENST00000547757.2:c.*490C>A	ENSP00000448020.2:n.*490C>A
ENST00000548931.6:c.1007C>A	ENSP00000457518.1:p.Pro336His
ENST00000549450.6:n.1506C>A
ENST00000672797.1:n.2061C>A
ENST00000209873.8:c.1572C>A	ENSP00000209873.4:p.Thr524=
ENST00000394384.7:c.1473C>A	ENSP00000377908.3:p.Thr491=
ENST00000548931.5:c.1007C>A	ENSP00000457518.1:p.Pro336His
ENST00000550286.5:c.1200C>A	ENSP00000446885.1:p.Thr400=
ENST00000552876.5:n.1915C>A
NM_001173466.1:c.1473C>A	NP_001166937.1:p.Thr491=
NM_015665.5:c.1572C>A	NP_056480.1:p.Thr524=
XM_006719617.2:c.1587C>A	XP_006719680.1:p.Thr529=
XM_011538777.1:c.1629C>A	XP_011537079.1:p.Thr543=
XM_011538778.1:c.1614C>A	XP_011537080.1:p.Thr538=
XM_011538779.1:c.1530C>A	XP_011537081.1:p.Thr510=
XM_011538780.1:c.1515C>A	XP_011537082.1:p.Thr505=
XM_011538781.1:c.963C>A	XP_011537083.1:p.Thr321=
XM_011538778.2:c.1614C>A	XP_011537080.1:p.Thr538=
XM_011538780.2:c.1515C>A	XP_011537082.1:p.Thr505=
XR_001748875.2:n.1629C>A
NM_015665.6:c.1572C>A MANE Select	NP_056480.1:p.Thr524=
NM_001173466.2:c.1473C>A	NP_001166937.1:p.Thr491=