Canonical Allele Identifier: CA385041324

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702782T>C (hg19) ; chr12:g.53308998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308998T>C , CM000674.2:g.53308998T>C	GRCh38
NC_000012.11:g.53702782T>C , CM000674.1:g.53702782T>C	GRCh37
NC_000012.10:g.51989049T>C	NCBI36
NG_016775.1:g.17631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.958A>G MANE Select	ENSP00000209873.4:p.Thr320Ala
ENST00000546393.7:n.1803A>G
ENST00000546562.6:n.2022A>G
ENST00000547238.6:n.1594A>G
ENST00000547520.6:n.952A>G
ENST00000547757.2:c.7A>G	ENSP00000448020.2:p.Thr3Ala
ENST00000548880.2:n.1408A>G
ENST00000548931.6:c.478A>G	ENSP00000457518.1:p.Thr160Ala
ENST00000549450.6:n.892A>G
ENST00000552161.6:n.1914A>G
ENST00000672797.1:n.1411A>G
ENST00000672900.1:n.1756A>G
ENST00000209873.8:c.958A>G	ENSP00000209873.4:p.Thr320Ala
ENST00000394384.7:c.859A>G	ENSP00000377908.3:p.Thr287Ala
ENST00000546572.1:n.546A>G
ENST00000547520.5:n.662A>G
ENST00000548931.5:c.478A>G	ENSP00000457518.1:p.Thr160Ala
ENST00000550033.5:n.213A>G
ENST00000550286.5:c.586A>G	ENSP00000446885.1:p.Thr196Ala
ENST00000552876.5:n.1301A>G
NM_001173466.1:c.859A>G	NP_001166937.1:p.Thr287Ala
NM_015665.5:c.958A>G	NP_056480.1:p.Thr320Ala
XM_006719617.2:c.973A>G	XP_006719680.1:p.Thr325Ala
XM_006719619.2:c.973A>G	XP_006719682.1:p.Thr325Ala
XM_011538777.1:c.973A>G	XP_011537079.1:p.Thr325Ala
XM_011538778.1:c.958A>G	XP_011537080.1:p.Thr320Ala
XM_011538779.1:c.874A>G	XP_011537081.1:p.Thr292Ala
XM_011538780.1:c.859A>G	XP_011537082.1:p.Thr287Ala
XM_011538781.1:c.307A>G	XP_011537083.1:p.Thr103Ala
XM_011538778.2:c.958A>G	XP_011537080.1:p.Thr320Ala
XM_011538780.2:c.859A>G	XP_011537082.1:p.Thr287Ala
XR_001748875.2:n.979A>G
NM_015665.6:c.958A>G MANE Select	NP_056480.1:p.Thr320Ala
NM_001173466.2:c.859A>G	NP_001166937.1:p.Thr287Ala