Canonical Allele Identifier: CA117224
Gene: AAAS HGNC NCBI

Linked Data

ClinVar Variation Id: 5040
dbSNP Id: rs121918548

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.1432C>T MANE Select ENSP00000209873.4:p.Arg478Ter
ENST00000546562.6:n.2496C>T
ENST00000547238.6:n.2068C>T
ENST00000547520.6:n.1548C>T
ENST00000547757.2:c.*350C>T ENSP00000448020.2:n.*350C>T
ENST00000548880.2:n.1882C>T
ENST00000548931.6:c.867C>T ENSP00000457518.1:p.Ala289=
ENST00000549450.6:n.1366C>T
ENST00000552161.6:n.2510C>T
ENST00000672797.1:n.1921C>T
ENST00000209873.8:c.1432C>T ENSP00000209873.4:p.Arg478Ter
ENST00000394384.7:c.1333C>T ENSP00000377908.3:p.Arg445Ter
ENST00000548931.5:c.867C>T ENSP00000457518.1:p.Ala289=
ENST00000550286.5:c.1060C>T ENSP00000446885.1:p.Arg354Ter
ENST00000552876.5:n.1775C>T
NM_001173466.1:c.1333C>T NP_001166937.1:p.Arg445Ter
NM_015665.5:c.1432C>T NP_056480.1:p.Arg478Ter
XM_006719617.2:c.1447C>T XP_006719680.1:p.Arg483Ter
XM_011538777.1:c.1489C>T XP_011537079.1:p.Arg497Ter
XM_011538778.1:c.1474C>T XP_011537080.1:p.Arg492Ter
XM_011538779.1:c.1390C>T XP_011537081.1:p.Arg464Ter
XM_011538780.1:c.1375C>T XP_011537082.1:p.Arg459Ter
XM_011538781.1:c.823C>T XP_011537083.1:p.Arg275Ter
XM_011538778.2:c.1474C>T XP_011537080.1:p.Arg492Ter
XM_011538780.2:c.1375C>T XP_011537082.1:p.Arg459Ter
XR_001748875.2:n.1489C>T
NM_015665.6:c.1432C>T MANE Select NP_056480.1:p.Arg478Ter
NM_001173466.2:c.1333C>T NP_001166937.1:p.Arg445Ter