Canonical Allele Identifier: CA2036909495

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307518G= , CM000674.2:g.53307518G=	GRCh38
NC_000012.11:g.53701302G= , CM000674.1:g.53701302G=	GRCh37
NC_000012.10:g.51987569G=	NCBI36
NG_016775.1:g.19111C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1612C= MANE Select	ENSP00000209873.4:p.Leu538=
ENST00000546562.6:n.2676C=
ENST00000547238.6:n.2248C=
ENST00000547757.2:c.*530C=	ENSP00000448020.2:n.*530C=
ENST00000548931.6:c.1047C=	ENSP00000457518.1:p.Phe349=
ENST00000549450.6:n.1546C=
ENST00000672797.1:n.2101C=
ENST00000209873.8:c.1612C=	ENSP00000209873.4:p.Leu538=
ENST00000394384.7:c.1513C=	ENSP00000377908.3:p.Leu505=
ENST00000548931.5:c.1047C=	ENSP00000457518.1:p.Phe349=
ENST00000550286.5:c.1240C=	ENSP00000446885.1:p.Leu414=
ENST00000552876.5:n.1955C=
NM_001173466.1:c.1513C=	NP_001166937.1:p.Leu505=
NM_015665.5:c.1612C=	NP_056480.1:p.Leu538=
XM_006719617.2:c.1627C=	XP_006719680.1:p.Leu543=
XM_011538777.1:c.1669C=	XP_011537079.1:p.Leu557=
XM_011538778.1:c.1654C=	XP_011537080.1:p.Leu552=
XM_011538779.1:c.1570C=	XP_011537081.1:p.Leu524=
XM_011538780.1:c.1555C=	XP_011537082.1:p.Leu519=
XM_011538781.1:c.1003C=	XP_011537083.1:p.Leu335=
XM_011538778.2:c.1654C=	XP_011537080.1:p.Leu552=
XM_011538780.2:c.1555C=	XP_011537082.1:p.Leu519=
XR_001748875.2:n.1669C=
NM_015665.6:c.1612C= MANE Select	NP_056480.1:p.Leu538=
NM_001173466.2:c.1513C=	NP_001166937.1:p.Leu505=