Canonical Allele Identifier: CA385034854

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701338C>T (hg19) ; chr12:g.53307554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307554C>T , CM000674.2:g.53307554C>T	GRCh38
NC_000012.11:g.53701338C>T , CM000674.1:g.53701338C>T	GRCh37
NC_000012.10:g.51987605C>T	NCBI36
NG_016775.1:g.19075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1576G>A MANE Select	ENSP00000209873.4:p.Ala526Thr
ENST00000546562.6:n.2640G>A
ENST00000547238.6:n.2212G>A
ENST00000547520.6:n.1692G>A
ENST00000547757.2:c.*494G>A	ENSP00000448020.2:n.*494G>A
ENST00000548931.6:c.1011G>A	ENSP00000457518.1:p.Leu337=
ENST00000549450.6:n.1510G>A
ENST00000672797.1:n.2065G>A
ENST00000209873.8:c.1576G>A	ENSP00000209873.4:p.Ala526Thr
ENST00000394384.7:c.1477G>A	ENSP00000377908.3:p.Ala493Thr
ENST00000548931.5:c.1011G>A	ENSP00000457518.1:p.Leu337=
ENST00000550286.5:c.1204G>A	ENSP00000446885.1:p.Ala402Thr
ENST00000552876.5:n.1919G>A
NM_001173466.1:c.1477G>A	NP_001166937.1:p.Ala493Thr
NM_015665.5:c.1576G>A	NP_056480.1:p.Ala526Thr
XM_006719617.2:c.1591G>A	XP_006719680.1:p.Ala531Thr
XM_011538777.1:c.1633G>A	XP_011537079.1:p.Ala545Thr
XM_011538778.1:c.1618G>A	XP_011537080.1:p.Ala540Thr
XM_011538779.1:c.1534G>A	XP_011537081.1:p.Ala512Thr
XM_011538780.1:c.1519G>A	XP_011537082.1:p.Ala507Thr
XM_011538781.1:c.967G>A	XP_011537083.1:p.Ala323Thr
XM_011538778.2:c.1618G>A	XP_011537080.1:p.Ala540Thr
XM_011538780.2:c.1519G>A	XP_011537082.1:p.Ala507Thr
XR_001748875.2:n.1633G>A
NM_015665.6:c.1576G>A MANE Select	NP_056480.1:p.Ala526Thr
NM_001173466.2:c.1477G>A	NP_001166937.1:p.Ala493Thr