Canonical Allele Identifier: CA2036910156
Gene: AAAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53308850G= , CM000674.2:g.53308850G= GRCh38
NC_000012.11:g.53702634G= , CM000674.1:g.53702634G= GRCh37
NC_000012.10:g.51988901G= NCBI36
NG_016775.1:g.17779C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.997-35C= MANE Select ENSP00000209873.4:n.997-35C=
ENST00000546393.7:n.1842-35C=
ENST00000546562.6:n.2061-35C=
ENST00000547238.6:n.1633-35C=
ENST00000547520.6:n.991-35C=
ENST00000547757.2:c.46-35C= ENSP00000448020.2:n.46-35C=
ENST00000548880.2:n.1447-35C=
ENST00000548931.6:c.517-35C= ENSP00000457518.1:n.517-35C=
ENST00000549450.6:n.931-35C=
ENST00000552161.6:n.1953-35C=
ENST00000672797.1:n.1451C=
ENST00000672900.1:n.1904C=
ENST00000209873.8:c.997-35C= ENSP00000209873.4:n.997-35C=
ENST00000394384.7:c.898-35C= ENSP00000377908.3:n.898-35C=
ENST00000547520.5:n.701-35C=
ENST00000548931.5:c.517-35C= ENSP00000457518.1:n.517-35C=
ENST00000550033.5:n.252-35C=
ENST00000550286.5:c.625-35C= ENSP00000446885.1:n.625-35C=
ENST00000552876.5:n.1340-35C=
NM_001173466.1:c.898-35C= NP_001166937.1:n.898-35C=
NM_015665.5:c.997-35C= NP_056480.1:n.997-35C=
XM_006719617.2:c.1012-35C= XP_006719680.1:n.1012-35C=
XM_006719619.2:c.1013C= XP_006719682.1:p.Thr338=
XM_011538777.1:c.1012-35C= XP_011537079.1:n.1012-35C=
XM_011538778.1:c.997-35C= XP_011537080.1:n.997-35C=
XM_011538779.1:c.913-35C= XP_011537081.1:n.913-35C=
XM_011538780.1:c.898-35C= XP_011537082.1:n.898-35C=
XM_011538781.1:c.346-35C= XP_011537083.1:n.346-35C=
XM_011538778.2:c.997-35C= XP_011537080.1:n.997-35C=
XM_011538780.2:c.898-35C= XP_011537082.1:n.898-35C=
XR_001748875.2:n.1019C=
NM_015665.6:c.997-35C= MANE Select NP_056480.1:n.997-35C=
NM_001173466.2:c.898-35C= NP_001166937.1:n.898-35C=