Canonical Allele Identifier: CA385040549

Gene: AAAS

Linked Data

• COSMIC: COSM3462650
• MyVariant Identifiers: chr12:g.53702559G>A (hg19) ; chr12:g.53308775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308775G>A , CM000674.2:g.53308775G>A	GRCh38
NC_000012.11:g.53702559G>A , CM000674.1:g.53702559G>A	GRCh37
NC_000012.10:g.51988826G>A	NCBI36
NG_016775.1:g.17854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1037C>T MANE Select	ENSP00000209873.4:p.Thr346Ile
ENST00000546393.7:n.1882C>T
ENST00000546562.6:n.2101C>T
ENST00000547238.6:n.1673C>T
ENST00000547520.6:n.1031C>T
ENST00000547757.2:c.86C>T	ENSP00000448020.2:p.Thr29Ile
ENST00000548880.2:n.1487C>T
ENST00000548931.6:c.557C>T	ENSP00000457518.1:p.Thr186Ile
ENST00000549450.6:n.971C>T
ENST00000552161.6:n.1993C>T
ENST00000672797.1:n.1526C>T
ENST00000672900.1:n.1979C>T
ENST00000209873.8:c.1037C>T	ENSP00000209873.4:p.Thr346Ile
ENST00000394384.7:c.938C>T	ENSP00000377908.3:p.Thr313Ile
ENST00000547520.5:n.741C>T
ENST00000548931.5:c.557C>T	ENSP00000457518.1:p.Thr186Ile
ENST00000550033.5:n.292C>T
ENST00000550286.5:c.665C>T	ENSP00000446885.1:p.Thr222Ile
ENST00000552876.5:n.1380C>T
NM_001173466.1:c.938C>T	NP_001166937.1:p.Thr313Ile
NM_015665.5:c.1037C>T	NP_056480.1:p.Thr346Ile
XM_006719617.2:c.1052C>T	XP_006719680.1:p.Thr351Ile
XM_006719619.2:c.*47C>T	XP_006719682.1:n.*47C>T
XM_011538777.1:c.1052C>T	XP_011537079.1:p.Thr351Ile
XM_011538778.1:c.1037C>T	XP_011537080.1:p.Thr346Ile
XM_011538779.1:c.953C>T	XP_011537081.1:p.Thr318Ile
XM_011538780.1:c.938C>T	XP_011537082.1:p.Thr313Ile
XM_011538781.1:c.386C>T	XP_011537083.1:p.Thr129Ile
XM_011538778.2:c.1037C>T	XP_011537080.1:p.Thr346Ile
XM_011538780.2:c.938C>T	XP_011537082.1:p.Thr313Ile
XR_001748875.2:n.1094C>T
NM_015665.6:c.1037C>T MANE Select	NP_056480.1:p.Thr346Ile
NM_001173466.2:c.938C>T	NP_001166937.1:p.Thr313Ile