Canonical Allele Identifier: CA385040857

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702599T>C (hg19) ; chr12:g.53308815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308815T>C , CM000674.2:g.53308815T>C	GRCh38
NC_000012.11:g.53702599T>C , CM000674.1:g.53702599T>C	GRCh37
NC_000012.10:g.51988866T>C	NCBI36
NG_016775.1:g.17814A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997A>G MANE Select	ENSP00000209873.4:p.Thr333Ala
ENST00000546393.7:n.1842A>G
ENST00000546562.6:n.2061A>G
ENST00000547238.6:n.1633A>G
ENST00000547520.6:n.991A>G
ENST00000547757.2:c.46A>G	ENSP00000448020.2:p.Thr16Ala
ENST00000548880.2:n.1447A>G
ENST00000548931.6:c.517A>G	ENSP00000457518.1:p.Thr173Ala
ENST00000549450.6:n.931A>G
ENST00000552161.6:n.1953A>G
ENST00000672797.1:n.1486A>G
ENST00000672900.1:n.1939A>G
ENST00000209873.8:c.997A>G	ENSP00000209873.4:p.Thr333Ala
ENST00000394384.7:c.898A>G	ENSP00000377908.3:p.Thr300Ala
ENST00000547520.5:n.701A>G
ENST00000548931.5:c.517A>G	ENSP00000457518.1:p.Thr173Ala
ENST00000550033.5:n.252A>G
ENST00000550286.5:c.625A>G	ENSP00000446885.1:p.Thr209Ala
ENST00000552876.5:n.1340A>G
NM_001173466.1:c.898A>G	NP_001166937.1:p.Thr300Ala
NM_015665.5:c.997A>G	NP_056480.1:p.Thr333Ala
XM_006719617.2:c.1012A>G	XP_006719680.1:p.Thr338Ala
XM_006719619.2:c.*7A>G	XP_006719682.1:n.*7A>G
XM_011538777.1:c.1012A>G	XP_011537079.1:p.Thr338Ala
XM_011538778.1:c.997A>G	XP_011537080.1:p.Thr333Ala
XM_011538779.1:c.913A>G	XP_011537081.1:p.Thr305Ala
XM_011538780.1:c.898A>G	XP_011537082.1:p.Thr300Ala
XM_011538781.1:c.346A>G	XP_011537083.1:p.Thr116Ala
XM_011538778.2:c.997A>G	XP_011537080.1:p.Thr333Ala
XM_011538780.2:c.898A>G	XP_011537082.1:p.Thr300Ala
XR_001748875.2:n.1054A>G
NM_015665.6:c.997A>G MANE Select	NP_056480.1:p.Thr333Ala
NM_001173466.2:c.898A>G	NP_001166937.1:p.Thr300Ala