Canonical Allele Identifier: CA385037263

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701472T>C (hg19) ; chr12:g.53307688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307688T>C , CM000674.2:g.53307688T>C	GRCh38
NC_000012.11:g.53701472T>C , CM000674.1:g.53701472T>C	GRCh37
NC_000012.10:g.51987739T>C	NCBI36
NG_016775.1:g.18941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1442A>G MANE Select	ENSP00000209873.4:p.His481Arg
ENST00000546562.6:n.2506A>G
ENST00000547238.6:n.2078A>G
ENST00000547520.6:n.1558A>G
ENST00000547757.2:c.*360A>G	ENSP00000448020.2:n.*360A>G
ENST00000548880.2:n.1892A>G
ENST00000548931.6:c.877A>G	ENSP00000457518.1:p.Thr293Ala
ENST00000549450.6:n.1376A>G
ENST00000552161.6:n.2520A>G
ENST00000672797.1:n.1931A>G
ENST00000209873.8:c.1442A>G	ENSP00000209873.4:p.His481Arg
ENST00000394384.7:c.1343A>G	ENSP00000377908.3:p.His448Arg
ENST00000548931.5:c.877A>G	ENSP00000457518.1:p.Thr293Ala
ENST00000550286.5:c.1070A>G	ENSP00000446885.1:p.His357Arg
ENST00000552876.5:n.1785A>G
NM_001173466.1:c.1343A>G	NP_001166937.1:p.His448Arg
NM_015665.5:c.1442A>G	NP_056480.1:p.His481Arg
XM_006719617.2:c.1457A>G	XP_006719680.1:p.His486Arg
XM_011538777.1:c.1499A>G	XP_011537079.1:p.His500Arg
XM_011538778.1:c.1484A>G	XP_011537080.1:p.His495Arg
XM_011538779.1:c.1400A>G	XP_011537081.1:p.His467Arg
XM_011538780.1:c.1385A>G	XP_011537082.1:p.His462Arg
XM_011538781.1:c.833A>G	XP_011537083.1:p.His278Arg
XM_011538778.2:c.1484A>G	XP_011537080.1:p.His495Arg
XM_011538780.2:c.1385A>G	XP_011537082.1:p.His462Arg
XR_001748875.2:n.1499A>G
NM_015665.6:c.1442A>G MANE Select	NP_056480.1:p.His481Arg
NM_001173466.2:c.1343A>G	NP_001166937.1:p.His448Arg