Canonical Allele Identifier: CA385037264

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1442A>C MANE Select	ENSP00000209873.4:p.His481Pro
ENST00000546562.6:n.2506A>C
ENST00000547238.6:n.2078A>C
ENST00000547520.6:n.1558A>C
ENST00000547757.2:c.*360A>C	ENSP00000448020.2:n.*360A>C
ENST00000548880.2:n.1892A>C
ENST00000548931.6:c.877A>C	ENSP00000457518.1:p.Thr293Pro
ENST00000549450.6:n.1376A>C
ENST00000552161.6:n.2520A>C
ENST00000672797.1:n.1931A>C
ENST00000209873.8:c.1442A>C	ENSP00000209873.4:p.His481Pro
ENST00000394384.7:c.1343A>C	ENSP00000377908.3:p.His448Pro
ENST00000548931.5:c.877A>C	ENSP00000457518.1:p.Thr293Pro
ENST00000550286.5:c.1070A>C	ENSP00000446885.1:p.His357Pro
ENST00000552876.5:n.1785A>C
NM_001173466.1:c.1343A>C	NP_001166937.1:p.His448Pro
NM_015665.5:c.1442A>C	NP_056480.1:p.His481Pro
XM_006719617.2:c.1457A>C	XP_006719680.1:p.His486Pro
XM_011538777.1:c.1499A>C	XP_011537079.1:p.His500Pro
XM_011538778.1:c.1484A>C	XP_011537080.1:p.His495Pro
XM_011538779.1:c.1400A>C	XP_011537081.1:p.His467Pro
XM_011538780.1:c.1385A>C	XP_011537082.1:p.His462Pro
XM_011538781.1:c.833A>C	XP_011537083.1:p.His278Pro
XM_011538778.2:c.1484A>C	XP_011537080.1:p.His495Pro
XM_011538780.2:c.1385A>C	XP_011537082.1:p.His462Pro
XR_001748875.2:n.1499A>C
NM_015665.6:c.1442A>C MANE Select	NP_056480.1:p.His481Pro
NM_001173466.2:c.1343A>C	NP_001166937.1:p.His448Pro