Canonical Allele Identifier: CA385037422

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701488T>G (hg19) ; chr12:g.53307704T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307704T>G , CM000674.2:g.53307704T>G	GRCh38
NC_000012.11:g.53701488T>G , CM000674.1:g.53701488T>G	GRCh37
NC_000012.10:g.51987755T>G	NCBI36
NG_016775.1:g.18925A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1426A>C MANE Select	ENSP00000209873.4:p.Thr476Pro
ENST00000546562.6:n.2490A>C
ENST00000547238.6:n.2062A>C
ENST00000547520.6:n.1542A>C
ENST00000547757.2:c.*344A>C	ENSP00000448020.2:n.*344A>C
ENST00000548880.2:n.1876A>C
ENST00000548931.6:c.861A>C	ENSP00000457518.1:p.Pro287=
ENST00000549450.6:n.1360A>C
ENST00000552161.6:n.2504A>C
ENST00000672797.1:n.1915A>C
ENST00000209873.8:c.1426A>C	ENSP00000209873.4:p.Thr476Pro
ENST00000394384.7:c.1327A>C	ENSP00000377908.3:p.Thr443Pro
ENST00000548931.5:c.861A>C	ENSP00000457518.1:p.Pro287=
ENST00000550286.5:c.1054A>C	ENSP00000446885.1:p.Thr352Pro
ENST00000552876.5:n.1769A>C
NM_001173466.1:c.1327A>C	NP_001166937.1:p.Thr443Pro
NM_015665.5:c.1426A>C	NP_056480.1:p.Thr476Pro
XM_006719617.2:c.1441A>C	XP_006719680.1:p.Thr481Pro
XM_011538777.1:c.1483A>C	XP_011537079.1:p.Thr495Pro
XM_011538778.1:c.1468A>C	XP_011537080.1:p.Thr490Pro
XM_011538779.1:c.1384A>C	XP_011537081.1:p.Thr462Pro
XM_011538780.1:c.1369A>C	XP_011537082.1:p.Thr457Pro
XM_011538781.1:c.817A>C	XP_011537083.1:p.Thr273Pro
XM_011538778.2:c.1468A>C	XP_011537080.1:p.Thr490Pro
XM_011538780.2:c.1369A>C	XP_011537082.1:p.Thr457Pro
XR_001748875.2:n.1483A>C
NM_015665.6:c.1426A>C MANE Select	NP_056480.1:p.Thr476Pro
NM_001173466.2:c.1327A>C	NP_001166937.1:p.Thr443Pro