Canonical Allele Identifier: CA385036922

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701443A>T (hg19) ; chr12:g.53307659A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307659A>T , CM000674.2:g.53307659A>T	GRCh38
NC_000012.11:g.53701443A>T , CM000674.1:g.53701443A>T	GRCh37
NC_000012.10:g.51987710A>T	NCBI36
NG_016775.1:g.18970T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1471T>A MANE Select	ENSP00000209873.4:p.Phe491Ile
ENST00000546562.6:n.2535T>A
ENST00000547238.6:n.2107T>A
ENST00000547520.6:n.1587T>A
ENST00000547757.2:c.*389T>A	ENSP00000448020.2:n.*389T>A
ENST00000548880.2:n.1921T>A
ENST00000548931.6:c.906T>A	ENSP00000457518.1:p.Ser302Arg
ENST00000549450.6:n.1405T>A
ENST00000552161.6:n.2549T>A
ENST00000672797.1:n.1960T>A
ENST00000209873.8:c.1471T>A	ENSP00000209873.4:p.Phe491Ile
ENST00000394384.7:c.1372T>A	ENSP00000377908.3:p.Phe458Ile
ENST00000548931.5:c.906T>A	ENSP00000457518.1:p.Ser302Arg
ENST00000550286.5:c.1099T>A	ENSP00000446885.1:p.Phe367Ile
ENST00000552876.5:n.1814T>A
NM_001173466.1:c.1372T>A	NP_001166937.1:p.Phe458Ile
NM_015665.5:c.1471T>A	NP_056480.1:p.Phe491Ile
XM_006719617.2:c.1486T>A	XP_006719680.1:p.Phe496Ile
XM_011538777.1:c.1528T>A	XP_011537079.1:p.Phe510Ile
XM_011538778.1:c.1513T>A	XP_011537080.1:p.Phe505Ile
XM_011538779.1:c.1429T>A	XP_011537081.1:p.Phe477Ile
XM_011538780.1:c.1414T>A	XP_011537082.1:p.Phe472Ile
XM_011538781.1:c.862T>A	XP_011537083.1:p.Phe288Ile
XM_011538778.2:c.1513T>A	XP_011537080.1:p.Phe505Ile
XM_011538780.2:c.1414T>A	XP_011537082.1:p.Phe472Ile
XR_001748875.2:n.1528T>A
NM_015665.6:c.1471T>A MANE Select	NP_056480.1:p.Phe491Ile
NM_001173466.2:c.1372T>A	NP_001166937.1:p.Phe458Ile