Canonical Allele Identifier: CA385038437

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701851A>C (hg19) ; chr12:g.53308067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308067A>C , CM000674.2:g.53308067A>C	GRCh38
NC_000012.11:g.53701851A>C , CM000674.1:g.53701851A>C	GRCh37
NC_000012.10:g.51988118A>C	NCBI36
NG_016775.1:g.18562T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1316T>G MANE Select	ENSP00000209873.4:p.Phe439Cys
ENST00000546562.6:n.2380T>G
ENST00000547238.6:n.1952T>G
ENST00000547520.6:n.1310T>G
ENST00000547757.2:c.365T>G	ENSP00000448020.2:p.Phe122Cys
ENST00000548880.2:n.1766T>G
ENST00000548931.6:c.836T>G	ENSP00000457518.1:p.Phe279Cys
ENST00000549450.6:n.1250T>G
ENST00000552161.6:n.2272T>G
ENST00000672797.1:n.1805T>G
ENST00000672900.1:n.2406T>G
ENST00000209873.8:c.1316T>G	ENSP00000209873.4:p.Phe439Cys
ENST00000394384.7:c.1217T>G	ENSP00000377908.3:p.Phe406Cys
ENST00000548931.5:c.836T>G	ENSP00000457518.1:p.Phe279Cys
ENST00000550033.5:n.571T>G
ENST00000550286.5:c.944T>G	ENSP00000446885.1:p.Phe315Cys
ENST00000552876.5:n.1659T>G
NM_001173466.1:c.1217T>G	NP_001166937.1:p.Phe406Cys
NM_015665.5:c.1316T>G	NP_056480.1:p.Phe439Cys
XM_006719617.2:c.1331T>G	XP_006719680.1:p.Phe444Cys
XM_011538777.1:c.1331T>G	XP_011537079.1:p.Phe444Cys
XM_011538778.1:c.1316T>G	XP_011537080.1:p.Phe439Cys
XM_011538779.1:c.1232T>G	XP_011537081.1:p.Phe411Cys
XM_011538780.1:c.1217T>G	XP_011537082.1:p.Phe406Cys
XM_011538781.1:c.665T>G	XP_011537083.1:p.Phe222Cys
XM_011538778.2:c.1316T>G	XP_011537080.1:p.Phe439Cys
XM_011538780.2:c.1217T>G	XP_011537082.1:p.Phe406Cys
XR_001748875.2:n.1373T>G
NM_015665.6:c.1316T>G MANE Select	NP_056480.1:p.Phe439Cys
NM_001173466.2:c.1217T>G	NP_001166937.1:p.Phe406Cys