Canonical Allele Identifier: CA480081377

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701482G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307698G>T , CM000674.2:g.53307698G>T	GRCh38
NC_000012.11:g.53701482G>T , CM000674.1:g.53701482G>T	GRCh37
NC_000012.10:g.51987749G>T	NCBI36
NG_016775.1:g.18931C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1432C>A MANE Select	ENSP00000209873.4:p.Arg478=
ENST00000546562.6:n.2496C>A
ENST00000547238.6:n.2068C>A
ENST00000547520.6:n.1548C>A
ENST00000547757.2:c.*350C>A	ENSP00000448020.2:n.*350C>A
ENST00000548880.2:n.1882C>A
ENST00000548931.6:c.867C>A	ENSP00000457518.1:p.Ala289=
ENST00000549450.6:n.1366C>A
ENST00000552161.6:n.2510C>A
ENST00000672797.1:n.1921C>A
ENST00000209873.8:c.1432C>A	ENSP00000209873.4:p.Arg478=
ENST00000394384.7:c.1333C>A	ENSP00000377908.3:p.Arg445=
ENST00000548931.5:c.867C>A	ENSP00000457518.1:p.Ala289=
ENST00000550286.5:c.1060C>A	ENSP00000446885.1:p.Arg354=
ENST00000552876.5:n.1775C>A
NM_001173466.1:c.1333C>A	NP_001166937.1:p.Arg445=
NM_015665.5:c.1432C>A	NP_056480.1:p.Arg478=
XM_006719617.2:c.1447C>A	XP_006719680.1:p.Arg483=
XM_011538777.1:c.1489C>A	XP_011537079.1:p.Arg497=
XM_011538778.1:c.1474C>A	XP_011537080.1:p.Arg492=
XM_011538779.1:c.1390C>A	XP_011537081.1:p.Arg464=
XM_011538780.1:c.1375C>A	XP_011537082.1:p.Arg459=
XM_011538781.1:c.823C>A	XP_011537083.1:p.Arg275=
XM_011538778.2:c.1474C>A	XP_011537080.1:p.Arg492=
XM_011538780.2:c.1375C>A	XP_011537082.1:p.Arg459=
XR_001748875.2:n.1489C>A
NM_015665.6:c.1432C>A MANE Select	NP_056480.1:p.Arg478=
NM_001173466.2:c.1333C>A	NP_001166937.1:p.Arg445=