Canonical Allele Identifier: CA6599041
Gene: AAAS HGNC NCBI

Linked Data

ClinVar Variation Id: 309730
dbSNP Id: rs79881935

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53309017G>A , CM000674.2:g.53309017G>A GRCh38
NC_000012.11:g.53702801G>A , CM000674.1:g.53702801G>A GRCh37
NC_000012.10:g.51989068G>A NCBI36
NG_016775.1:g.17612C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.939C>T MANE Select ENSP00000209873.4:p.Val313=
ENST00000546393.7:n.1784C>T
ENST00000546562.6:n.2003C>T
ENST00000547238.6:n.1575C>T
ENST00000547520.6:n.933C>T
ENST00000547757.2:c.-13C>T ENSP00000448020.2:n.-13C>T
ENST00000548880.2:n.1389C>T
ENST00000548931.6:c.459C>T ENSP00000457518.1:p.Val153=
ENST00000549450.6:n.873C>T
ENST00000552161.6:n.1895C>T
ENST00000672797.1:n.1392C>T
ENST00000672900.1:n.1737C>T
ENST00000209873.8:c.939C>T ENSP00000209873.4:p.Val313=
ENST00000394384.7:c.840C>T ENSP00000377908.3:p.Val280=
ENST00000546572.1:n.527C>T
ENST00000547520.5:n.643C>T
ENST00000548931.5:c.459C>T ENSP00000457518.1:p.Val153=
ENST00000550033.5:n.194C>T
ENST00000550286.5:c.567C>T ENSP00000446885.1:p.Val189=
ENST00000552876.5:n.1282C>T
NM_001173466.1:c.840C>T NP_001166937.1:p.Val280=
NM_015665.5:c.939C>T NP_056480.1:p.Val313=
XM_006719617.2:c.954C>T XP_006719680.1:p.Val318=
XM_006719619.2:c.954C>T XP_006719682.1:p.Val318=
XM_011538777.1:c.954C>T XP_011537079.1:p.Val318=
XM_011538778.1:c.939C>T XP_011537080.1:p.Val313=
XM_011538779.1:c.855C>T XP_011537081.1:p.Val285=
XM_011538780.1:c.840C>T XP_011537082.1:p.Val280=
XM_011538781.1:c.288C>T XP_011537083.1:p.Val96=
XM_011538778.2:c.939C>T XP_011537080.1:p.Val313=
XM_011538780.2:c.840C>T XP_011537082.1:p.Val280=
XR_001748875.2:n.960C>T
NM_015665.6:c.939C>T MANE Select NP_056480.1:p.Val313=
NM_001173466.2:c.840C>T NP_001166937.1:p.Val280=