Canonical Allele Identifier: CA2036909506

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307541G= , CM000674.2:g.53307541G=	GRCh38
NC_000012.11:g.53701325G= , CM000674.1:g.53701325G=	GRCh37
NC_000012.10:g.51987592G=	NCBI36
NG_016775.1:g.19088C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1589C= MANE Select	ENSP00000209873.4:p.Pro530=
ENST00000546562.6:n.2653C=
ENST00000547238.6:n.2225C=
ENST00000547520.6:n.1705C=
ENST00000547757.2:c.*507C=	ENSP00000448020.2:n.*507C=
ENST00000548931.6:c.1024C=	ENSP00000457518.1:p.Leu342=
ENST00000549450.6:n.1523C=
ENST00000672797.1:n.2078C=
ENST00000209873.8:c.1589C=	ENSP00000209873.4:p.Pro530=
ENST00000394384.7:c.1490C=	ENSP00000377908.3:p.Pro497=
ENST00000548931.5:c.1024C=	ENSP00000457518.1:p.Leu342=
ENST00000550286.5:c.1217C=	ENSP00000446885.1:p.Pro406=
ENST00000552876.5:n.1932C=
NM_001173466.1:c.1490C=	NP_001166937.1:p.Pro497=
NM_015665.5:c.1589C=	NP_056480.1:p.Pro530=
XM_006719617.2:c.1604C=	XP_006719680.1:p.Pro535=
XM_011538777.1:c.1646C=	XP_011537079.1:p.Pro549=
XM_011538778.1:c.1631C=	XP_011537080.1:p.Pro544=
XM_011538779.1:c.1547C=	XP_011537081.1:p.Pro516=
XM_011538780.1:c.1532C=	XP_011537082.1:p.Pro511=
XM_011538781.1:c.980C=	XP_011537083.1:p.Pro327=
XM_011538778.2:c.1631C=	XP_011537080.1:p.Pro544=
XM_011538780.2:c.1532C=	XP_011537082.1:p.Pro511=
XR_001748875.2:n.1646C=
NM_015665.6:c.1589C= MANE Select	NP_056480.1:p.Pro530=
NM_001173466.2:c.1490C=	NP_001166937.1:p.Pro497=