Canonical Allele Identifier: CA385036912

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1472T>A MANE Select	ENSP00000209873.4:p.Phe491Tyr
ENST00000546562.6:n.2536T>A
ENST00000547238.6:n.2108T>A
ENST00000547520.6:n.1588T>A
ENST00000547757.2:c.*390T>A	ENSP00000448020.2:n.*390T>A
ENST00000548880.2:n.1922T>A
ENST00000548931.6:c.907T>A	ENSP00000457518.1:p.Phe303Ile
ENST00000549450.6:n.1406T>A
ENST00000552161.6:n.2550T>A
ENST00000672797.1:n.1961T>A
ENST00000209873.8:c.1472T>A	ENSP00000209873.4:p.Phe491Tyr
ENST00000394384.7:c.1373T>A	ENSP00000377908.3:p.Phe458Tyr
ENST00000548931.5:c.907T>A	ENSP00000457518.1:p.Phe303Ile
ENST00000550286.5:c.1100T>A	ENSP00000446885.1:p.Phe367Tyr
ENST00000552876.5:n.1815T>A
NM_001173466.1:c.1373T>A	NP_001166937.1:p.Phe458Tyr
NM_015665.5:c.1472T>A	NP_056480.1:p.Phe491Tyr
XM_006719617.2:c.1487T>A	XP_006719680.1:p.Phe496Tyr
XM_011538777.1:c.1529T>A	XP_011537079.1:p.Phe510Tyr
XM_011538778.1:c.1514T>A	XP_011537080.1:p.Phe505Tyr
XM_011538779.1:c.1430T>A	XP_011537081.1:p.Phe477Tyr
XM_011538780.1:c.1415T>A	XP_011537082.1:p.Phe472Tyr
XM_011538781.1:c.863T>A	XP_011537083.1:p.Phe288Tyr
XM_011538778.2:c.1514T>A	XP_011537080.1:p.Phe505Tyr
XM_011538780.2:c.1415T>A	XP_011537082.1:p.Phe472Tyr
XR_001748875.2:n.1529T>A
NM_015665.6:c.1472T>A MANE Select	NP_056480.1:p.Phe491Tyr
NM_001173466.2:c.1373T>A	NP_001166937.1:p.Phe458Tyr