Canonical Allele Identifier: CA2036910311

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309175G= , CM000674.2:g.53309175G=	GRCh38
NC_000012.11:g.53702959G= , CM000674.1:g.53702959G=	GRCh37
NC_000012.10:g.51989226G=	NCBI36
NG_016775.1:g.17454C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.917C= MANE Select	ENSP00000209873.4:p.Thr306=
ENST00000546393.7:n.1762C=
ENST00000546562.6:n.1981C=
ENST00000547238.6:n.1553C=
ENST00000547520.6:n.911C=
ENST00000547757.2:c.-35C=	ENSP00000448020.2:n.-35C=
ENST00000548880.2:n.1367C=
ENST00000548931.6:c.437C=	ENSP00000457518.1:p.Thr146=
ENST00000549450.6:n.851C=
ENST00000552161.6:n.1873C=
ENST00000672797.1:n.1370C=
ENST00000672900.1:n.1715C=
ENST00000209873.8:c.917C=	ENSP00000209873.4:p.Thr306=
ENST00000394384.7:c.818C=	ENSP00000377908.3:p.Thr273=
ENST00000546393.6:n.814C=
ENST00000546572.1:n.369C=
ENST00000547520.5:n.621C=
ENST00000547757.1:c.818C=	ENSP00000448020.1:p.Thr273=
ENST00000547761.6:n.809C=
ENST00000548931.5:c.437C=	ENSP00000457518.1:p.Thr146=
ENST00000550033.5:n.172C=
ENST00000550286.5:c.545C=	ENSP00000446885.1:p.Thr182=
ENST00000552876.5:n.1260C=
NM_001173466.1:c.818C=	NP_001166937.1:p.Thr273=
NM_015665.5:c.917C=	NP_056480.1:p.Thr306=
XM_006719617.2:c.932C=	XP_006719680.1:p.Thr311=
XM_006719619.2:c.932C=	XP_006719682.1:p.Thr311=
XM_011538777.1:c.932C=	XP_011537079.1:p.Thr311=
XM_011538778.1:c.917C=	XP_011537080.1:p.Thr306=
XM_011538779.1:c.833C=	XP_011537081.1:p.Thr278=
XM_011538780.1:c.818C=	XP_011537082.1:p.Thr273=
XM_011538781.1:c.266C=	XP_011537083.1:p.Thr89=
XM_011538778.2:c.917C=	XP_011537080.1:p.Thr306=
XM_011538780.2:c.818C=	XP_011537082.1:p.Thr273=
XR_001748875.2:n.938C=
NM_015665.6:c.917C= MANE Select	NP_056480.1:p.Thr306=
NM_001173466.2:c.818C=	NP_001166937.1:p.Thr273=