Canonical Allele Identifier: CA385036905

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701442A>C (hg19) ; chr12:g.53307658A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307658A>C , CM000674.2:g.53307658A>C	GRCh38
NC_000012.11:g.53701442A>C , CM000674.1:g.53701442A>C	GRCh37
NC_000012.10:g.51987709A>C	NCBI36
NG_016775.1:g.18971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1472T>G MANE Select	ENSP00000209873.4:p.Phe491Cys
ENST00000546562.6:n.2536T>G
ENST00000547238.6:n.2108T>G
ENST00000547520.6:n.1588T>G
ENST00000547757.2:c.*390T>G	ENSP00000448020.2:n.*390T>G
ENST00000548880.2:n.1922T>G
ENST00000548931.6:c.907T>G	ENSP00000457518.1:p.Phe303Val
ENST00000549450.6:n.1406T>G
ENST00000552161.6:n.2550T>G
ENST00000672797.1:n.1961T>G
ENST00000209873.8:c.1472T>G	ENSP00000209873.4:p.Phe491Cys
ENST00000394384.7:c.1373T>G	ENSP00000377908.3:p.Phe458Cys
ENST00000548931.5:c.907T>G	ENSP00000457518.1:p.Phe303Val
ENST00000550286.5:c.1100T>G	ENSP00000446885.1:p.Phe367Cys
ENST00000552876.5:n.1815T>G
NM_001173466.1:c.1373T>G	NP_001166937.1:p.Phe458Cys
NM_015665.5:c.1472T>G	NP_056480.1:p.Phe491Cys
XM_006719617.2:c.1487T>G	XP_006719680.1:p.Phe496Cys
XM_011538777.1:c.1529T>G	XP_011537079.1:p.Phe510Cys
XM_011538778.1:c.1514T>G	XP_011537080.1:p.Phe505Cys
XM_011538779.1:c.1430T>G	XP_011537081.1:p.Phe477Cys
XM_011538780.1:c.1415T>G	XP_011537082.1:p.Phe472Cys
XM_011538781.1:c.863T>G	XP_011537083.1:p.Phe288Cys
XM_011538778.2:c.1514T>G	XP_011537080.1:p.Phe505Cys
XM_011538780.2:c.1415T>G	XP_011537082.1:p.Phe472Cys
XR_001748875.2:n.1529T>G
NM_015665.6:c.1472T>G MANE Select	NP_056480.1:p.Phe491Cys
NM_001173466.2:c.1373T>G	NP_001166937.1:p.Phe458Cys