Canonical Allele Identifier: CA2036909787

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308107G= , CM000674.2:g.53308107G=	GRCh38
NC_000012.11:g.53701891G= , CM000674.1:g.53701891G=	GRCh37
NC_000012.10:g.51988158G=	NCBI36
NG_016775.1:g.18522C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1276C= MANE Select	ENSP00000209873.4:p.Pro426=
ENST00000546562.6:n.2340C=
ENST00000547238.6:n.1912C=
ENST00000547520.6:n.1270C=
ENST00000547757.2:c.325C=	ENSP00000448020.2:p.Pro109=
ENST00000548880.2:n.1726C=
ENST00000548931.6:c.796C=	ENSP00000457518.1:p.Pro266=
ENST00000549450.6:n.1210C=
ENST00000552161.6:n.2232C=
ENST00000672797.1:n.1765C=
ENST00000672900.1:n.2366C=
ENST00000209873.8:c.1276C=	ENSP00000209873.4:p.Pro426=
ENST00000394384.7:c.1177C=	ENSP00000377908.3:p.Pro393=
ENST00000548931.5:c.796C=	ENSP00000457518.1:p.Pro266=
ENST00000550033.5:n.531C=
ENST00000550286.5:c.904C=	ENSP00000446885.1:p.Pro302=
ENST00000552876.5:n.1619C=
NM_001173466.1:c.1177C=	NP_001166937.1:p.Pro393=
NM_015665.5:c.1276C=	NP_056480.1:p.Pro426=
XM_006719617.2:c.1291C=	XP_006719680.1:p.Pro431=
XM_011538777.1:c.1291C=	XP_011537079.1:p.Pro431=
XM_011538778.1:c.1276C=	XP_011537080.1:p.Pro426=
XM_011538779.1:c.1192C=	XP_011537081.1:p.Pro398=
XM_011538780.1:c.1177C=	XP_011537082.1:p.Pro393=
XM_011538781.1:c.625C=	XP_011537083.1:p.Pro209=
XM_011538778.2:c.1276C=	XP_011537080.1:p.Pro426=
XM_011538780.2:c.1177C=	XP_011537082.1:p.Pro393=
XR_001748875.2:n.1333C=
NM_015665.6:c.1276C= MANE Select	NP_056480.1:p.Pro426=
NM_001173466.2:c.1177C=	NP_001166937.1:p.Pro393=