Canonical Allele Identifier: CA117222
Gene: AAAS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5039
ClinVar RCV Id: RCV000005342
dbSNP Id: rs121918547

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53309158G>A , CM000674.2:g.53309158G>A GRCh38
NC_000012.11:g.53702942G>A , CM000674.1:g.53702942G>A GRCh37
NC_000012.10:g.51989209G>A NCBI36
NG_016775.1:g.17471C>T

Transcript Alleles

HGVS Amino-acid change
NM_001173466.1:c.835C>T VV NP_001166937.1:p.Arg279Ter
NM_015665.5:c.934C>T VV NP_056480.1:p.Arg312Ter
XM_006719617.2:c.949C>T XP_006719680.1:p.Arg317Ter
XM_006719619.2:c.949C>T XP_006719682.1:p.Arg317Ter
XM_011538777.1:c.949C>T XP_011537079.1:p.Arg317Ter
XM_011538778.1:c.934C>T XP_011537080.1:p.Arg312Ter
XM_011538779.1:c.850C>T XP_011537081.1:p.Arg284Ter
XM_011538780.1:c.835C>T XP_011537082.1:p.Arg279Ter
XM_011538781.1:c.283C>T XP_011537083.1:p.Arg95Ter
XM_011538778.2:c.934C>T XP_011537080.1:p.Arg312Ter
XM_011538780.2:c.835C>T XP_011537082.1:p.Arg279Ter
XR_001748875.2:n.955C>T
NM_015665.6:c.934C>T VV MANE Preferred NP_056480.1:p.Arg312Ter
ENST00000209873.8:c.934C>T ENSP00000209873.4:p.Arg312Ter
ENST00000394384.7:c.835C>T ENSP00000377908.3:p.Arg279Ter
ENST00000546393.6:n.831C>T
ENST00000546572.1:n.386C>T
ENST00000547520.5:n.638C>T
ENST00000547761.6:n.826C>T
ENST00000548931.5:n.454C>T ENSP00000457518.1:p.Arg152Ter
ENST00000550033.5:n.189C>T
ENST00000550286.5:c.562C>T ENSP00000446885.1:p.Arg188Ter
ENST00000552876.5:n.1277C>T