Canonical Allele Identifier: CA385041929
Gene: AAAS HGNC NCBI

Linked Data

ClinVar Variation Id: 429876
dbSNP Id: rs766542823

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53309207C>T , CM000674.2:g.53309207C>T GRCh38
NC_000012.11:g.53702991C>T , CM000674.1:g.53702991C>T GRCh37
NC_000012.10:g.51989258C>T NCBI36
NG_016775.1:g.17422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.885G>A MANE Select ENSP00000209873.4:p.Trp295Ter
ENST00000546393.7:n.1730G>A
ENST00000546562.6:n.1949G>A
ENST00000547238.6:n.1521G>A
ENST00000547520.6:n.879G>A
ENST00000547757.2:c.-67G>A ENSP00000448020.2:n.-67G>A
ENST00000548880.2:n.1335G>A
ENST00000548931.6:c.405G>A ENSP00000457518.1:p.Trp135Ter
ENST00000549450.6:n.819G>A
ENST00000552161.6:n.1841G>A
ENST00000672797.1:n.1338G>A
ENST00000672900.1:n.1683G>A
ENST00000209873.8:c.885G>A ENSP00000209873.4:p.Trp295Ter
ENST00000394384.7:c.786G>A ENSP00000377908.3:p.Trp262Ter
ENST00000546393.6:n.782G>A
ENST00000546572.1:n.337G>A
ENST00000547520.5:n.589G>A
ENST00000547757.1:c.786G>A ENSP00000448020.1:p.Trp262Ter
ENST00000547761.6:n.777G>A
ENST00000548931.5:c.405G>A ENSP00000457518.1:p.Trp135Ter
ENST00000550033.5:n.140G>A
ENST00000550286.5:c.513G>A ENSP00000446885.1:p.Trp171Ter
ENST00000552876.5:n.1228G>A
NM_001173466.1:c.786G>A NP_001166937.1:p.Trp262Ter
NM_015665.5:c.885G>A NP_056480.1:p.Trp295Ter
XM_006719617.2:c.900G>A XP_006719680.1:p.Trp300Ter
XM_006719619.2:c.900G>A XP_006719682.1:p.Trp300Ter
XM_011538777.1:c.900G>A XP_011537079.1:p.Trp300Ter
XM_011538778.1:c.885G>A XP_011537080.1:p.Trp295Ter
XM_011538779.1:c.801G>A XP_011537081.1:p.Trp267Ter
XM_011538780.1:c.786G>A XP_011537082.1:p.Trp262Ter
XM_011538781.1:c.234G>A XP_011537083.1:p.Trp78Ter
XM_011538778.2:c.885G>A XP_011537080.1:p.Trp295Ter
XM_011538780.2:c.786G>A XP_011537082.1:p.Trp262Ter
XR_001748875.2:n.906G>A
NM_015665.6:c.885G>A MANE Select NP_056480.1:p.Trp295Ter
NM_001173466.2:c.786G>A NP_001166937.1:p.Trp262Ter