Canonical Allele Identifier: CA2036909578

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307681C= , CM000674.2:g.53307681C=	GRCh38
NC_000012.11:g.53701465C= , CM000674.1:g.53701465C=	GRCh37
NC_000012.10:g.51987732C=	NCBI36
NG_016775.1:g.18948G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1449G= MANE Select	ENSP00000209873.4:p.Pro483=
ENST00000546562.6:n.2513G=
ENST00000547238.6:n.2085G=
ENST00000547520.6:n.1565G=
ENST00000547757.2:c.*367G=	ENSP00000448020.2:n.*367G=
ENST00000548880.2:n.1899G=
ENST00000548931.6:c.884G=	ENSP00000457518.1:p.Arg295=
ENST00000549450.6:n.1383G=
ENST00000552161.6:n.2527G=
ENST00000672797.1:n.1938G=
ENST00000209873.8:c.1449G=	ENSP00000209873.4:p.Pro483=
ENST00000394384.7:c.1350G=	ENSP00000377908.3:p.Pro450=
ENST00000548931.5:c.884G=	ENSP00000457518.1:p.Arg295=
ENST00000550286.5:c.1077G=	ENSP00000446885.1:p.Pro359=
ENST00000552876.5:n.1792G=
NM_001173466.1:c.1350G=	NP_001166937.1:p.Pro450=
NM_015665.5:c.1449G=	NP_056480.1:p.Pro483=
XM_006719617.2:c.1464G=	XP_006719680.1:p.Pro488=
XM_011538777.1:c.1506G=	XP_011537079.1:p.Pro502=
XM_011538778.1:c.1491G=	XP_011537080.1:p.Pro497=
XM_011538779.1:c.1407G=	XP_011537081.1:p.Pro469=
XM_011538780.1:c.1392G=	XP_011537082.1:p.Pro464=
XM_011538781.1:c.840G=	XP_011537083.1:p.Pro280=
XM_011538778.2:c.1491G=	XP_011537080.1:p.Pro497=
XM_011538780.2:c.1392G=	XP_011537082.1:p.Pro464=
XR_001748875.2:n.1506G=
NM_015665.6:c.1449G= MANE Select	NP_056480.1:p.Pro483=
NM_001173466.2:c.1350G=	NP_001166937.1:p.Pro450=