Canonical Allele Identifier: CA385040561

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702560T>C (hg19) ; chr12:g.53308776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308776T>C , CM000674.2:g.53308776T>C	GRCh38
NC_000012.11:g.53702560T>C , CM000674.1:g.53702560T>C	GRCh37
NC_000012.10:g.51988827T>C	NCBI36
NG_016775.1:g.17853A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1036A>G MANE Select	ENSP00000209873.4:p.Thr346Ala
ENST00000546393.7:n.1881A>G
ENST00000546562.6:n.2100A>G
ENST00000547238.6:n.1672A>G
ENST00000547520.6:n.1030A>G
ENST00000547757.2:c.85A>G	ENSP00000448020.2:p.Thr29Ala
ENST00000548880.2:n.1486A>G
ENST00000548931.6:c.556A>G	ENSP00000457518.1:p.Thr186Ala
ENST00000549450.6:n.970A>G
ENST00000552161.6:n.1992A>G
ENST00000672797.1:n.1525A>G
ENST00000672900.1:n.1978A>G
ENST00000209873.8:c.1036A>G	ENSP00000209873.4:p.Thr346Ala
ENST00000394384.7:c.937A>G	ENSP00000377908.3:p.Thr313Ala
ENST00000547520.5:n.740A>G
ENST00000548931.5:c.556A>G	ENSP00000457518.1:p.Thr186Ala
ENST00000550033.5:n.291A>G
ENST00000550286.5:c.664A>G	ENSP00000446885.1:p.Thr222Ala
ENST00000552876.5:n.1379A>G
NM_001173466.1:c.937A>G	NP_001166937.1:p.Thr313Ala
NM_015665.5:c.1036A>G	NP_056480.1:p.Thr346Ala
XM_006719617.2:c.1051A>G	XP_006719680.1:p.Thr351Ala
XM_006719619.2:c.*46A>G	XP_006719682.1:n.*46A>G
XM_011538777.1:c.1051A>G	XP_011537079.1:p.Thr351Ala
XM_011538778.1:c.1036A>G	XP_011537080.1:p.Thr346Ala
XM_011538779.1:c.952A>G	XP_011537081.1:p.Thr318Ala
XM_011538780.1:c.937A>G	XP_011537082.1:p.Thr313Ala
XM_011538781.1:c.385A>G	XP_011537083.1:p.Thr129Ala
XM_011538778.2:c.1036A>G	XP_011537080.1:p.Thr346Ala
XM_011538780.2:c.937A>G	XP_011537082.1:p.Thr313Ala
XR_001748875.2:n.1093A>G
NM_015665.6:c.1036A>G MANE Select	NP_056480.1:p.Thr346Ala
NM_001173466.2:c.937A>G	NP_001166937.1:p.Thr313Ala