Canonical Allele Identifier: CA385041602

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702944A>C (hg19) ; chr12:g.53309160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309160A>C , CM000674.2:g.53309160A>C	GRCh38
NC_000012.11:g.53702944A>C , CM000674.1:g.53702944A>C	GRCh37
NC_000012.10:g.51989211A>C	NCBI36
NG_016775.1:g.17469T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.932T>G MANE Select	ENSP00000209873.4:p.Phe311Cys
ENST00000546393.7:n.1777T>G
ENST00000546562.6:n.1996T>G
ENST00000547238.6:n.1568T>G
ENST00000547520.6:n.926T>G
ENST00000547757.2:c.-20T>G	ENSP00000448020.2:n.-20T>G
ENST00000548880.2:n.1382T>G
ENST00000548931.6:c.452T>G	ENSP00000457518.1:p.Phe151Cys
ENST00000549450.6:n.866T>G
ENST00000552161.6:n.1888T>G
ENST00000672797.1:n.1385T>G
ENST00000672900.1:n.1730T>G
ENST00000209873.8:c.932T>G	ENSP00000209873.4:p.Phe311Cys
ENST00000394384.7:c.833T>G	ENSP00000377908.3:p.Phe278Cys
ENST00000546393.6:n.829T>G
ENST00000546572.1:n.384T>G
ENST00000547520.5:n.636T>G
ENST00000547757.1:c.833T>G
ENST00000547761.6:n.824T>G
ENST00000548931.5:c.452T>G	ENSP00000457518.1:p.Phe151Cys
ENST00000550033.5:n.187T>G
ENST00000550286.5:c.560T>G	ENSP00000446885.1:p.Phe187Cys
ENST00000552876.5:n.1275T>G
NM_001173466.1:c.833T>G	NP_001166937.1:p.Phe278Cys
NM_015665.5:c.932T>G	NP_056480.1:p.Phe311Cys
XM_006719617.2:c.947T>G	XP_006719680.1:p.Phe316Cys
XM_006719619.2:c.947T>G	XP_006719682.1:p.Phe316Cys
XM_011538777.1:c.947T>G	XP_011537079.1:p.Phe316Cys
XM_011538778.1:c.932T>G	XP_011537080.1:p.Phe311Cys
XM_011538779.1:c.848T>G	XP_011537081.1:p.Phe283Cys
XM_011538780.1:c.833T>G	XP_011537082.1:p.Phe278Cys
XM_011538781.1:c.281T>G	XP_011537083.1:p.Phe94Cys
XM_011538778.2:c.932T>G	XP_011537080.1:p.Phe311Cys
XM_011538780.2:c.833T>G	XP_011537082.1:p.Phe278Cys
XR_001748875.2:n.953T>G
NM_015665.6:c.932T>G MANE Select	NP_056480.1:p.Phe311Cys
NM_001173466.2:c.833T>G	NP_001166937.1:p.Phe278Cys