Canonical Allele Identifier: CA385040818

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702590A>G (hg19) ; chr12:g.53308806A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308806A>G , CM000674.2:g.53308806A>G	GRCh38
NC_000012.11:g.53702590A>G , CM000674.1:g.53702590A>G	GRCh37
NC_000012.10:g.51988857A>G	NCBI36
NG_016775.1:g.17823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1006T>C MANE Select	ENSP00000209873.4:p.Trp336Arg
ENST00000546393.7:n.1851T>C
ENST00000546562.6:n.2070T>C
ENST00000547238.6:n.1642T>C
ENST00000547520.6:n.1000T>C
ENST00000547757.2:c.55T>C	ENSP00000448020.2:p.Trp19Arg
ENST00000548880.2:n.1456T>C
ENST00000548931.6:c.526T>C	ENSP00000457518.1:p.Trp176Arg
ENST00000549450.6:n.940T>C
ENST00000552161.6:n.1962T>C
ENST00000672797.1:n.1495T>C
ENST00000672900.1:n.1948T>C
ENST00000209873.8:c.1006T>C	ENSP00000209873.4:p.Trp336Arg
ENST00000394384.7:c.907T>C	ENSP00000377908.3:p.Trp303Arg
ENST00000547520.5:n.710T>C
ENST00000548931.5:c.526T>C	ENSP00000457518.1:p.Trp176Arg
ENST00000550033.5:n.261T>C
ENST00000550286.5:c.634T>C	ENSP00000446885.1:p.Trp212Arg
ENST00000552876.5:n.1349T>C
NM_001173466.1:c.907T>C	NP_001166937.1:p.Trp303Arg
NM_015665.5:c.1006T>C	NP_056480.1:p.Trp336Arg
XM_006719617.2:c.1021T>C	XP_006719680.1:p.Trp341Arg
XM_006719619.2:c.*16T>C	XP_006719682.1:n.*16T>C
XM_011538777.1:c.1021T>C	XP_011537079.1:p.Trp341Arg
XM_011538778.1:c.1006T>C	XP_011537080.1:p.Trp336Arg
XM_011538779.1:c.922T>C	XP_011537081.1:p.Trp308Arg
XM_011538780.1:c.907T>C	XP_011537082.1:p.Trp303Arg
XM_011538781.1:c.355T>C	XP_011537083.1:p.Trp119Arg
XM_011538778.2:c.1006T>C	XP_011537080.1:p.Trp336Arg
XM_011538780.2:c.907T>C	XP_011537082.1:p.Trp303Arg
XR_001748875.2:n.1063T>C
NM_015665.6:c.1006T>C MANE Select	NP_056480.1:p.Trp336Arg
NM_001173466.2:c.907T>C	NP_001166937.1:p.Trp303Arg