Canonical Allele Identifier: CA2036913028

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53314796G= , CM000674.2:g.53314796G=	GRCh38
NC_000012.11:g.53708580G= , CM000674.1:g.53708580G=	GRCh37
NC_000012.10:g.51994847G=	NCBI36
NG_016775.1:g.11833C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.500C= MANE Select	ENSP00000209873.4:p.Ala167=
ENST00000546393.7:n.1036C=
ENST00000546562.6:n.1255C=
ENST00000547238.6:n.1136C=
ENST00000547520.6:n.494C=
ENST00000547757.2:c.-407+298C=	ENSP00000448020.2:n.-407+298C=
ENST00000548880.2:n.950C=
ENST00000548931.6:c.20C=	ENSP00000457518.1:p.Ala7=
ENST00000549450.6:n.434C=
ENST00000552161.6:n.1456C=
ENST00000672797.1:n.953C=
ENST00000672900.1:n.989C=
ENST00000209873.8:c.500C=	ENSP00000209873.4:p.Ala167=
ENST00000394384.7:c.446+298C=	ENSP00000377908.3:n.446+298C=
ENST00000546393.6:n.88C=
ENST00000547238.5:n.893C=
ENST00000547520.5:n.204C=
ENST00000547757.1:c.446+298C=	ENSP00000448020.1:n.446+298C=
ENST00000547761.6:n.392C=
ENST00000548258.5:n.528C=
ENST00000548931.5:c.20C=	ENSP00000457518.1:p.Ala7=
ENST00000549450.5:n.494C=
ENST00000549821.5:n.498C=
ENST00000549983.5:n.523C=
ENST00000550286.5:c.128C=	ENSP00000446885.1:p.Ala43=
ENST00000551724.5:n.550C=
ENST00000552876.5:n.888+298C=
NM_001173466.1:c.446+298C=	NP_001166937.1:n.446+298C=
NM_015665.5:c.500C=	NP_056480.1:p.Ala167=
XM_006719617.2:c.515C=	XP_006719680.1:p.Ala172=
XM_006719619.2:c.515C=	XP_006719682.1:p.Ala172=
XM_011538777.1:c.515C=	XP_011537079.1:p.Ala172=
XM_011538778.1:c.500C=	XP_011537080.1:p.Ala167=
XM_011538779.1:c.461+298C=	XP_011537081.1:n.461+298C=
XM_011538780.1:c.446+298C=	XP_011537082.1:n.446+298C=
XM_011538778.2:c.500C=	XP_011537080.1:p.Ala167=
XM_011538780.2:c.446+298C=	XP_011537082.1:n.446+298C=
XR_001748875.2:n.566+298C=
NM_015665.6:c.500C= MANE Select	NP_056480.1:p.Ala167=
NM_001173466.2:c.446+298C=	NP_001166937.1:n.446+298C=