Canonical Allele Identifier: CA479918466

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308813-A-T
• MyVariant Identifiers: chr12:g.53702597A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308813A>T , CM000674.2:g.53308813A>T	GRCh38
NC_000012.11:g.53702597A>T , CM000674.1:g.53702597A>T	GRCh37
NC_000012.10:g.51988864A>T	NCBI36
NG_016775.1:g.17816T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.999T>A MANE Select	ENSP00000209873.4:p.Thr333=
ENST00000546393.7:n.1844T>A
ENST00000546562.6:n.2063T>A
ENST00000547238.6:n.1635T>A
ENST00000547520.6:n.993T>A
ENST00000547757.2:c.48T>A	ENSP00000448020.2:p.Thr16=
ENST00000548880.2:n.1449T>A
ENST00000548931.6:c.519T>A	ENSP00000457518.1:p.Thr173=
ENST00000549450.6:n.933T>A
ENST00000552161.6:n.1955T>A
ENST00000672797.1:n.1488T>A
ENST00000672900.1:n.1941T>A
ENST00000209873.8:c.999T>A	ENSP00000209873.4:p.Thr333=
ENST00000394384.7:c.900T>A	ENSP00000377908.3:p.Thr300=
ENST00000547520.5:n.703T>A
ENST00000548931.5:c.519T>A	ENSP00000457518.1:p.Thr173=
ENST00000550033.5:n.254T>A
ENST00000550286.5:c.627T>A	ENSP00000446885.1:p.Thr209=
ENST00000552876.5:n.1342T>A
NM_001173466.1:c.900T>A	NP_001166937.1:p.Thr300=
NM_015665.5:c.999T>A	NP_056480.1:p.Thr333=
XM_006719617.2:c.1014T>A	XP_006719680.1:p.Thr338=
XM_006719619.2:c.*9T>A	XP_006719682.1:n.*9T>A
XM_011538777.1:c.1014T>A	XP_011537079.1:p.Thr338=
XM_011538778.1:c.999T>A	XP_011537080.1:p.Thr333=
XM_011538779.1:c.915T>A	XP_011537081.1:p.Thr305=
XM_011538780.1:c.900T>A	XP_011537082.1:p.Thr300=
XM_011538781.1:c.348T>A	XP_011537083.1:p.Thr116=
XM_011538778.2:c.999T>A	XP_011537080.1:p.Thr333=
XM_011538780.2:c.900T>A	XP_011537082.1:p.Thr300=
XR_001748875.2:n.1056T>A
NM_015665.6:c.999T>A MANE Select	NP_056480.1:p.Thr333=
NM_001173466.2:c.900T>A	NP_001166937.1:p.Thr300=