Canonical Allele Identifier: CA2036909778

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308095G= , CM000674.2:g.53308095G=	GRCh38
NC_000012.11:g.53701879G= , CM000674.1:g.53701879G=	GRCh37
NC_000012.10:g.51988146G=	NCBI36
NG_016775.1:g.18534C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1288C= MANE Select	ENSP00000209873.4:p.Leu430=
ENST00000546562.6:n.2352C=
ENST00000547238.6:n.1924C=
ENST00000547520.6:n.1282C=
ENST00000547757.2:c.337C=	ENSP00000448020.2:p.Leu113=
ENST00000548880.2:n.1738C=
ENST00000548931.6:c.808C=	ENSP00000457518.1:p.Leu270=
ENST00000549450.6:n.1222C=
ENST00000552161.6:n.2244C=
ENST00000672797.1:n.1777C=
ENST00000672900.1:n.2378C=
ENST00000209873.8:c.1288C=	ENSP00000209873.4:p.Leu430=
ENST00000394384.7:c.1189C=	ENSP00000377908.3:p.Leu397=
ENST00000548931.5:c.808C=	ENSP00000457518.1:p.Leu270=
ENST00000550033.5:n.543C=
ENST00000550286.5:c.916C=	ENSP00000446885.1:p.Leu306=
ENST00000552876.5:n.1631C=
NM_001173466.1:c.1189C=	NP_001166937.1:p.Leu397=
NM_015665.5:c.1288C=	NP_056480.1:p.Leu430=
XM_006719617.2:c.1303C=	XP_006719680.1:p.Leu435=
XM_011538777.1:c.1303C=	XP_011537079.1:p.Leu435=
XM_011538778.1:c.1288C=	XP_011537080.1:p.Leu430=
XM_011538779.1:c.1204C=	XP_011537081.1:p.Leu402=
XM_011538780.1:c.1189C=	XP_011537082.1:p.Leu397=
XM_011538781.1:c.637C=	XP_011537083.1:p.Leu213=
XM_011538778.2:c.1288C=	XP_011537080.1:p.Leu430=
XM_011538780.2:c.1189C=	XP_011537082.1:p.Leu397=
XR_001748875.2:n.1345C=
NM_015665.6:c.1288C= MANE Select	NP_056480.1:p.Leu430=
NM_001173466.2:c.1189C=	NP_001166937.1:p.Leu397=