Canonical Allele Identifier: CA2036910133
Gene: AAAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53308816C= , CM000674.2:g.53308816C= GRCh38
NC_000012.11:g.53702600C= , CM000674.1:g.53702600C= GRCh37
NC_000012.10:g.51988867C= NCBI36
NG_016775.1:g.17813G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.997-1G= MANE Select ENSP00000209873.4:n.997-1G=
ENST00000546393.7:n.1842-1G=
ENST00000546562.6:n.2061-1G=
ENST00000547238.6:n.1633-1G=
ENST00000547520.6:n.991-1G=
ENST00000547757.2:c.46-1G= ENSP00000448020.2:n.46-1G=
ENST00000548880.2:n.1447-1G=
ENST00000548931.6:c.517-1G= ENSP00000457518.1:n.517-1G=
ENST00000549450.6:n.931-1G=
ENST00000552161.6:n.1953-1G=
ENST00000672797.1:n.1485G=
ENST00000672900.1:n.1938G=
ENST00000209873.8:c.997-1G= ENSP00000209873.4:n.997-1G=
ENST00000394384.7:c.898-1G= ENSP00000377908.3:n.898-1G=
ENST00000547520.5:n.701-1G=
ENST00000548931.5:c.517-1G= ENSP00000457518.1:n.517-1G=
ENST00000550033.5:n.252-1G=
ENST00000550286.5:c.625-1G= ENSP00000446885.1:n.625-1G=
ENST00000552876.5:n.1340-1G=
NM_001173466.1:c.898-1G= NP_001166937.1:n.898-1G=
NM_015665.5:c.997-1G= NP_056480.1:n.997-1G=
XM_006719617.2:c.1012-1G= XP_006719680.1:n.1012-1G=
XM_006719619.2:c.*6G= XP_006719682.1:n.*6G=
XM_011538777.1:c.1012-1G= XP_011537079.1:n.1012-1G=
XM_011538778.1:c.997-1G= XP_011537080.1:n.997-1G=
XM_011538779.1:c.913-1G= XP_011537081.1:n.913-1G=
XM_011538780.1:c.898-1G= XP_011537082.1:n.898-1G=
XM_011538781.1:c.346-1G= XP_011537083.1:n.346-1G=
XM_011538778.2:c.997-1G= XP_011537080.1:n.997-1G=
XM_011538780.2:c.898-1G= XP_011537082.1:n.898-1G=
XR_001748875.2:n.1053G=
NM_015665.6:c.997-1G= MANE Select NP_056480.1:n.997-1G=
NM_001173466.2:c.898-1G= NP_001166937.1:n.898-1G=