Canonical Allele Identifier: CA2036909511

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307550G= , CM000674.2:g.53307550G=	GRCh38
NC_000012.11:g.53701334G= , CM000674.1:g.53701334G=	GRCh37
NC_000012.10:g.51987601G=	NCBI36
NG_016775.1:g.19079C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1580C= MANE Select	ENSP00000209873.4:p.Pro527=
ENST00000546562.6:n.2644C=
ENST00000547238.6:n.2216C=
ENST00000547520.6:n.1696C=
ENST00000547757.2:c.*498C=	ENSP00000448020.2:n.*498C=
ENST00000548931.6:c.1015C=	ENSP00000457518.1:p.Leu339=
ENST00000549450.6:n.1514C=
ENST00000672797.1:n.2069C=
ENST00000209873.8:c.1580C=	ENSP00000209873.4:p.Pro527=
ENST00000394384.7:c.1481C=	ENSP00000377908.3:p.Pro494=
ENST00000548931.5:c.1015C=	ENSP00000457518.1:p.Leu339=
ENST00000550286.5:c.1208C=	ENSP00000446885.1:p.Pro403=
ENST00000552876.5:n.1923C=
NM_001173466.1:c.1481C=	NP_001166937.1:p.Pro494=
NM_015665.5:c.1580C=	NP_056480.1:p.Pro527=
XM_006719617.2:c.1595C=	XP_006719680.1:p.Pro532=
XM_011538777.1:c.1637C=	XP_011537079.1:p.Pro546=
XM_011538778.1:c.1622C=	XP_011537080.1:p.Pro541=
XM_011538779.1:c.1538C=	XP_011537081.1:p.Pro513=
XM_011538780.1:c.1523C=	XP_011537082.1:p.Pro508=
XM_011538781.1:c.971C=	XP_011537083.1:p.Pro324=
XM_011538778.2:c.1622C=	XP_011537080.1:p.Pro541=
XM_011538780.2:c.1523C=	XP_011537082.1:p.Pro508=
XR_001748875.2:n.1637C=
NM_015665.6:c.1580C= MANE Select	NP_056480.1:p.Pro527=
NM_001173466.2:c.1481C=	NP_001166937.1:p.Pro494=