Canonical Allele Identifier: CA2036910230

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309004T= , CM000674.2:g.53309004T=	GRCh38
NC_000012.11:g.53702788T= , CM000674.1:g.53702788T=	GRCh37
NC_000012.10:g.51989055T=	NCBI36
NG_016775.1:g.17625A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.952A= MANE Select	ENSP00000209873.4:p.Met318=
ENST00000546393.7:n.1797A=
ENST00000546562.6:n.2016A=
ENST00000547238.6:n.1588A=
ENST00000547520.6:n.946A=
ENST00000547757.2:c.1A=	ENSP00000448020.2:p.Met1=
ENST00000548880.2:n.1402A=
ENST00000548931.6:c.472A=	ENSP00000457518.1:p.Met158=
ENST00000549450.6:n.886A=
ENST00000552161.6:n.1908A=
ENST00000672797.1:n.1405A=
ENST00000672900.1:n.1750A=
ENST00000209873.8:c.952A=	ENSP00000209873.4:p.Met318=
ENST00000394384.7:c.853A=	ENSP00000377908.3:p.Met285=
ENST00000546572.1:n.540A=
ENST00000547520.5:n.656A=
ENST00000548931.5:c.472A=	ENSP00000457518.1:p.Met158=
ENST00000550033.5:n.207A=
ENST00000550286.5:c.580A=	ENSP00000446885.1:p.Met194=
ENST00000552876.5:n.1295A=
NM_001173466.1:c.853A=	NP_001166937.1:p.Met285=
NM_015665.5:c.952A=	NP_056480.1:p.Met318=
XM_006719617.2:c.967A=	XP_006719680.1:p.Met323=
XM_006719619.2:c.967A=	XP_006719682.1:p.Met323=
XM_011538777.1:c.967A=	XP_011537079.1:p.Met323=
XM_011538778.1:c.952A=	XP_011537080.1:p.Met318=
XM_011538779.1:c.868A=	XP_011537081.1:p.Met290=
XM_011538780.1:c.853A=	XP_011537082.1:p.Met285=
XM_011538781.1:c.301A=	XP_011537083.1:p.Met101=
XM_011538778.2:c.952A=	XP_011537080.1:p.Met318=
XM_011538780.2:c.853A=	XP_011537082.1:p.Met285=
XR_001748875.2:n.973A=
NM_015665.6:c.952A= MANE Select	NP_056480.1:p.Met318=
NM_001173466.2:c.853A=	NP_001166937.1:p.Met285=