Canonical Allele Identifier: CA2036910260
Gene: AAAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53309070G= , CM000674.2:g.53309070G= GRCh38
NC_000012.11:g.53702854G= , CM000674.1:g.53702854G= GRCh37
NC_000012.10:g.51989121G= NCBI36
NG_016775.1:g.17559C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.936-50C= MANE Select ENSP00000209873.4:n.936-50C=
ENST00000546393.7:n.1781-50C=
ENST00000546562.6:n.2000-50C=
ENST00000547238.6:n.1572-50C=
ENST00000547520.6:n.930-50C=
ENST00000547757.2:c.-16-50C= ENSP00000448020.2:n.-16-50C=
ENST00000548880.2:n.1386-50C=
ENST00000548931.6:c.456-50C= ENSP00000457518.1:n.456-50C=
ENST00000549450.6:n.870-50C=
ENST00000552161.6:n.1892-50C=
ENST00000672797.1:n.1389-50C=
ENST00000672900.1:n.1734-50C=
ENST00000209873.8:c.936-50C= ENSP00000209873.4:n.936-50C=
ENST00000394384.7:c.837-50C= ENSP00000377908.3:n.837-50C=
ENST00000546572.1:n.474C=
ENST00000547520.5:n.640-50C=
ENST00000548931.5:c.456-50C= ENSP00000457518.1:n.456-50C=
ENST00000550033.5:n.191-50C=
ENST00000550286.5:c.564-50C= ENSP00000446885.1:n.564-50C=
ENST00000552876.5:n.1279-50C=
NM_001173466.1:c.837-50C= NP_001166937.1:n.837-50C=
NM_015665.5:c.936-50C= NP_056480.1:n.936-50C=
XM_006719617.2:c.951-50C= XP_006719680.1:n.951-50C=
XM_006719619.2:c.951-50C= XP_006719682.1:n.951-50C=
XM_011538777.1:c.951-50C= XP_011537079.1:n.951-50C=
XM_011538778.1:c.936-50C= XP_011537080.1:n.936-50C=
XM_011538779.1:c.852-50C= XP_011537081.1:n.852-50C=
XM_011538780.1:c.837-50C= XP_011537082.1:n.837-50C=
XM_011538781.1:c.285-50C= XP_011537083.1:n.285-50C=
XM_011538778.2:c.936-50C= XP_011537080.1:n.936-50C=
XM_011538780.2:c.837-50C= XP_011537082.1:n.837-50C=
XR_001748875.2:n.957-50C=
NM_015665.6:c.936-50C= MANE Select NP_056480.1:n.936-50C=
NM_001173466.2:c.837-50C= NP_001166937.1:n.837-50C=