Canonical Allele Identifier: CA2036910098

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308742G= , CM000674.2:g.53308742G=	GRCh38
NC_000012.11:g.53702526G= , CM000674.1:g.53702526G=	GRCh37
NC_000012.10:g.51988793G=	NCBI36
NG_016775.1:g.17887C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1070C= MANE Select	ENSP00000209873.4:p.Ser357=
ENST00000546562.6:n.2134C=
ENST00000547238.6:n.1706C=
ENST00000547520.6:n.1064C=
ENST00000547757.2:c.119C=	ENSP00000448020.2:p.Ser40=
ENST00000548880.2:n.1520C=
ENST00000548931.6:c.590C=	ENSP00000457518.1:p.Ser197=
ENST00000549450.6:n.1004C=
ENST00000552161.6:n.2026C=
ENST00000672797.1:n.1559C=
ENST00000672900.1:n.2012C=
ENST00000209873.8:c.1070C=	ENSP00000209873.4:p.Ser357=
ENST00000394384.7:c.971C=	ENSP00000377908.3:p.Ser324=
ENST00000548931.5:c.590C=	ENSP00000457518.1:p.Ser197=
ENST00000550033.5:n.325C=
ENST00000550286.5:c.698C=	ENSP00000446885.1:p.Ser233=
ENST00000552876.5:n.1413C=
NM_001173466.1:c.971C=	NP_001166937.1:p.Ser324=
NM_015665.5:c.1070C=	NP_056480.1:p.Ser357=
XM_006719617.2:c.1085C=	XP_006719680.1:p.Ser362=
XM_011538777.1:c.1085C=	XP_011537079.1:p.Ser362=
XM_011538778.1:c.1070C=	XP_011537080.1:p.Ser357=
XM_011538779.1:c.986C=	XP_011537081.1:p.Ser329=
XM_011538780.1:c.971C=	XP_011537082.1:p.Ser324=
XM_011538781.1:c.419C=	XP_011537083.1:p.Ser140=
XM_011538778.2:c.1070C=	XP_011537080.1:p.Ser357=
XM_011538780.2:c.971C=	XP_011537082.1:p.Ser324=
XR_001748875.2:n.1127C=
NM_015665.6:c.1070C= MANE Select	NP_056480.1:p.Ser357=
NM_001173466.2:c.971C=	NP_001166937.1:p.Ser324=