Canonical Allele Identifier: CA2036909493

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307514G= , CM000674.2:g.53307514G=	GRCh38
NC_000012.11:g.53701298G= , CM000674.1:g.53701298G=	GRCh37
NC_000012.10:g.51987565G=	NCBI36
NG_016775.1:g.19115C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1616C= MANE Select	ENSP00000209873.4:p.Pro539=
ENST00000546562.6:n.2680C=
ENST00000547757.2:c.*534C=	ENSP00000448020.2:n.*534C=
ENST00000548931.6:c.1051C=	ENSP00000457518.1:p.Pro351=
ENST00000549450.6:n.1550C=
ENST00000209873.8:c.1616C=	ENSP00000209873.4:p.Pro539=
ENST00000394384.7:c.1517C=	ENSP00000377908.3:p.Pro506=
ENST00000548931.5:c.1051C=	ENSP00000457518.1:p.Pro351=
ENST00000550286.5:c.1244C=	ENSP00000446885.1:p.Pro415=
ENST00000552876.5:n.1959C=
NM_001173466.1:c.1517C=	NP_001166937.1:p.Pro506=
NM_015665.5:c.1616C=	NP_056480.1:p.Pro539=
XM_006719617.2:c.1631C=	XP_006719680.1:p.Pro544=
XM_011538777.1:c.1673C=	XP_011537079.1:p.Pro558=
XM_011538778.1:c.1658C=	XP_011537080.1:p.Pro553=
XM_011538779.1:c.1574C=	XP_011537081.1:p.Pro525=
XM_011538780.1:c.1559C=	XP_011537082.1:p.Pro520=
XM_011538781.1:c.1007C=	XP_011537083.1:p.Pro336=
XM_011538778.2:c.1658C=	XP_011537080.1:p.Pro553=
XM_011538780.2:c.1559C=	XP_011537082.1:p.Pro520=
XR_001748875.2:n.1673C=
NM_015665.6:c.1616C= MANE Select	NP_056480.1:p.Pro539=
NM_001173466.2:c.1517C=	NP_001166937.1:p.Pro506=