Canonical Allele Identifier: CA2036910110

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308761G= , CM000674.2:g.53308761G=	GRCh38
NC_000012.11:g.53702545G= , CM000674.1:g.53702545G=	GRCh37
NC_000012.10:g.51988812G=	NCBI36
NG_016775.1:g.17868C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1051C= MANE Select	ENSP00000209873.4:p.Pro351=
ENST00000546562.6:n.2115C=
ENST00000547238.6:n.1687C=
ENST00000547520.6:n.1045C=
ENST00000547757.2:c.100C=	ENSP00000448020.2:p.Pro34=
ENST00000548880.2:n.1501C=
ENST00000548931.6:c.571C=	ENSP00000457518.1:p.Pro191=
ENST00000549450.6:n.985C=
ENST00000552161.6:n.2007C=
ENST00000672797.1:n.1540C=
ENST00000672900.1:n.1993C=
ENST00000209873.8:c.1051C=	ENSP00000209873.4:p.Pro351=
ENST00000394384.7:c.952C=	ENSP00000377908.3:p.Pro318=
ENST00000547520.5:n.755C=
ENST00000548931.5:c.571C=	ENSP00000457518.1:p.Pro191=
ENST00000550033.5:n.306C=
ENST00000550286.5:c.679C=	ENSP00000446885.1:p.Pro227=
ENST00000552876.5:n.1394C=
NM_001173466.1:c.952C=	NP_001166937.1:p.Pro318=
NM_015665.5:c.1051C=	NP_056480.1:p.Pro351=
XM_006719617.2:c.1066C=	XP_006719680.1:p.Pro356=
XM_006719619.2:c.*61C=	XP_006719682.1:n.*61C=
XM_011538777.1:c.1066C=	XP_011537079.1:p.Pro356=
XM_011538778.1:c.1051C=	XP_011537080.1:p.Pro351=
XM_011538779.1:c.967C=	XP_011537081.1:p.Pro323=
XM_011538780.1:c.952C=	XP_011537082.1:p.Pro318=
XM_011538781.1:c.400C=	XP_011537083.1:p.Pro134=
XM_011538778.2:c.1051C=	XP_011537080.1:p.Pro351=
XM_011538780.2:c.952C=	XP_011537082.1:p.Pro318=
XR_001748875.2:n.1108C=
NM_015665.6:c.1051C= MANE Select	NP_056480.1:p.Pro351=
NM_001173466.2:c.952C=	NP_001166937.1:p.Pro318=