Canonical Allele Identifier: CA385037483

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701494A>G (hg19) ; chr12:g.53307710A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307710A>G , CM000674.2:g.53307710A>G	GRCh38
NC_000012.11:g.53701494A>G , CM000674.1:g.53701494A>G	GRCh37
NC_000012.10:g.51987761A>G	NCBI36
NG_016775.1:g.18919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1420T>C MANE Select	ENSP00000209873.4:p.Trp474Arg
ENST00000546562.6:n.2484T>C
ENST00000547238.6:n.2056T>C
ENST00000547520.6:n.1536T>C
ENST00000547757.2:c.*338T>C	ENSP00000448020.2:n.*338T>C
ENST00000548880.2:n.1870T>C
ENST00000548931.6:c.855T>C	ENSP00000457518.1:p.Ala285=
ENST00000549450.6:n.1354T>C
ENST00000552161.6:n.2498T>C
ENST00000672797.1:n.1909T>C
ENST00000209873.8:c.1420T>C	ENSP00000209873.4:p.Trp474Arg
ENST00000394384.7:c.1321T>C	ENSP00000377908.3:p.Trp441Arg
ENST00000548931.5:c.855T>C	ENSP00000457518.1:p.Ala285=
ENST00000550286.5:c.1048T>C	ENSP00000446885.1:p.Trp350Arg
ENST00000552876.5:n.1763T>C
NM_001173466.1:c.1321T>C	NP_001166937.1:p.Trp441Arg
NM_015665.5:c.1420T>C	NP_056480.1:p.Trp474Arg
XM_006719617.2:c.1435T>C	XP_006719680.1:p.Trp479Arg
XM_011538777.1:c.1477T>C	XP_011537079.1:p.Trp493Arg
XM_011538778.1:c.1462T>C	XP_011537080.1:p.Trp488Arg
XM_011538779.1:c.1378T>C	XP_011537081.1:p.Trp460Arg
XM_011538780.1:c.1363T>C	XP_011537082.1:p.Trp455Arg
XM_011538781.1:c.811T>C	XP_011537083.1:p.Trp271Arg
XM_011538778.2:c.1462T>C	XP_011537080.1:p.Trp488Arg
XM_011538780.2:c.1363T>C	XP_011537082.1:p.Trp455Arg
XR_001748875.2:n.1477T>C
NM_015665.6:c.1420T>C MANE Select	NP_056480.1:p.Trp474Arg
NM_001173466.2:c.1321T>C	NP_001166937.1:p.Trp441Arg