Canonical Allele Identifier: CA2036910095

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308737G= , CM000674.2:g.53308737G=	GRCh38
NC_000012.11:g.53702521G= , CM000674.1:g.53702521G=	GRCh37
NC_000012.10:g.51988788G=	NCBI36
NG_016775.1:g.17892C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1075C= MANE Select	ENSP00000209873.4:p.Pro359=
ENST00000546562.6:n.2139C=
ENST00000547238.6:n.1711C=
ENST00000547520.6:n.1069C=
ENST00000547757.2:c.124C=	ENSP00000448020.2:p.Pro42=
ENST00000548880.2:n.1525C=
ENST00000548931.6:c.595C=	ENSP00000457518.1:p.Pro199=
ENST00000549450.6:n.1009C=
ENST00000552161.6:n.2031C=
ENST00000672797.1:n.1564C=
ENST00000672900.1:n.2017C=
ENST00000209873.8:c.1075C=	ENSP00000209873.4:p.Pro359=
ENST00000394384.7:c.976C=	ENSP00000377908.3:p.Pro326=
ENST00000548931.5:c.595C=	ENSP00000457518.1:p.Pro199=
ENST00000550033.5:n.330C=
ENST00000550286.5:c.703C=	ENSP00000446885.1:p.Pro235=
ENST00000552876.5:n.1418C=
NM_001173466.1:c.976C=	NP_001166937.1:p.Pro326=
NM_015665.5:c.1075C=	NP_056480.1:p.Pro359=
XM_006719617.2:c.1090C=	XP_006719680.1:p.Pro364=
XM_011538777.1:c.1090C=	XP_011537079.1:p.Pro364=
XM_011538778.1:c.1075C=	XP_011537080.1:p.Pro359=
XM_011538779.1:c.991C=	XP_011537081.1:p.Pro331=
XM_011538780.1:c.976C=	XP_011537082.1:p.Pro326=
XM_011538781.1:c.424C=	XP_011537083.1:p.Pro142=
XM_011538778.2:c.1075C=	XP_011537080.1:p.Pro359=
XM_011538780.2:c.976C=	XP_011537082.1:p.Pro326=
XR_001748875.2:n.1132C=
NM_015665.6:c.1075C= MANE Select	NP_056480.1:p.Pro359=
NM_001173466.2:c.976C=	NP_001166937.1:p.Pro326=