Canonical Allele Identifier: CA2036910218

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308977G= , CM000674.2:g.53308977G=	GRCh38
NC_000012.11:g.53702761G= , CM000674.1:g.53702761G=	GRCh37
NC_000012.10:g.51989028G=	NCBI36
NG_016775.1:g.17652C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.979C= MANE Select	ENSP00000209873.4:p.Leu327=
ENST00000546393.7:n.1824C=
ENST00000546562.6:n.2043C=
ENST00000547238.6:n.1615C=
ENST00000547520.6:n.973C=
ENST00000547757.2:c.28C=	ENSP00000448020.2:p.Leu10=
ENST00000548880.2:n.1429C=
ENST00000548931.6:c.499C=	ENSP00000457518.1:p.Leu167=
ENST00000549450.6:n.913C=
ENST00000552161.6:n.1935C=
ENST00000672797.1:n.1432C=
ENST00000672900.1:n.1777C=
ENST00000209873.8:c.979C=	ENSP00000209873.4:p.Leu327=
ENST00000394384.7:c.880C=	ENSP00000377908.3:p.Leu294=
ENST00000546572.1:n.567C=
ENST00000547520.5:n.683C=
ENST00000548931.5:c.499C=	ENSP00000457518.1:p.Leu167=
ENST00000550033.5:n.234C=
ENST00000550286.5:c.607C=	ENSP00000446885.1:p.Leu203=
ENST00000552876.5:n.1322C=
NM_001173466.1:c.880C=	NP_001166937.1:p.Leu294=
NM_015665.5:c.979C=	NP_056480.1:p.Leu327=
XM_006719617.2:c.994C=	XP_006719680.1:p.Leu332=
XM_006719619.2:c.994C=	XP_006719682.1:p.Leu332=
XM_011538777.1:c.994C=	XP_011537079.1:p.Leu332=
XM_011538778.1:c.979C=	XP_011537080.1:p.Leu327=
XM_011538779.1:c.895C=	XP_011537081.1:p.Leu299=
XM_011538780.1:c.880C=	XP_011537082.1:p.Leu294=
XM_011538781.1:c.328C=	XP_011537083.1:p.Leu110=
XM_011538778.2:c.979C=	XP_011537080.1:p.Leu327=
XM_011538780.2:c.880C=	XP_011537082.1:p.Leu294=
XR_001748875.2:n.1000C=
NM_015665.6:c.979C= MANE Select	NP_056480.1:p.Leu327=
NM_001173466.2:c.880C=	NP_001166937.1:p.Leu294=