Canonical Allele Identifier: CA2036910160
Gene: AAAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53308863T= , CM000674.2:g.53308863T= GRCh38
NC_000012.11:g.53702647T= , CM000674.1:g.53702647T= GRCh37
NC_000012.10:g.51988914T= NCBI36
NG_016775.1:g.17766A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.997-48A= MANE Select ENSP00000209873.4:n.997-48A=
ENST00000546393.7:n.1842-48A=
ENST00000546562.6:n.2061-48A=
ENST00000547238.6:n.1633-48A=
ENST00000547520.6:n.991-48A=
ENST00000547757.2:c.46-48A= ENSP00000448020.2:n.46-48A=
ENST00000548880.2:n.1447-48A=
ENST00000548931.6:c.517-48A= ENSP00000457518.1:n.517-48A=
ENST00000549450.6:n.931-48A=
ENST00000552161.6:n.1953-48A=
ENST00000672797.1:n.1450-12A=
ENST00000672900.1:n.1891A=
ENST00000209873.8:c.997-48A= ENSP00000209873.4:n.997-48A=
ENST00000394384.7:c.898-48A= ENSP00000377908.3:n.898-48A=
ENST00000547520.5:n.701-48A=
ENST00000548931.5:c.517-48A= ENSP00000457518.1:n.517-48A=
ENST00000550033.5:n.252-48A=
ENST00000550286.5:c.625-48A= ENSP00000446885.1:n.625-48A=
ENST00000552876.5:n.1340-48A=
NM_001173466.1:c.898-48A= NP_001166937.1:n.898-48A=
NM_015665.5:c.997-48A= NP_056480.1:n.997-48A=
XM_006719617.2:c.1012-48A= XP_006719680.1:n.1012-48A=
XM_006719619.2:c.1012-12A= XP_006719682.1:n.1012-12A=
XM_011538777.1:c.1012-48A= XP_011537079.1:n.1012-48A=
XM_011538778.1:c.997-48A= XP_011537080.1:n.997-48A=
XM_011538779.1:c.913-48A= XP_011537081.1:n.913-48A=
XM_011538780.1:c.898-48A= XP_011537082.1:n.898-48A=
XM_011538781.1:c.346-48A= XP_011537083.1:n.346-48A=
XM_011538778.2:c.997-48A= XP_011537080.1:n.997-48A=
XM_011538780.2:c.898-48A= XP_011537082.1:n.898-48A=
XR_001748875.2:n.1018-12A=
NM_015665.6:c.997-48A= MANE Select NP_056480.1:n.997-48A=
NM_001173466.2:c.898-48A= NP_001166937.1:n.898-48A=