Canonical Allele Identifier: CA2036909536

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307608C= , CM000674.2:g.53307608C=	GRCh38
NC_000012.11:g.53701392C= , CM000674.1:g.53701392C=	GRCh37
NC_000012.10:g.51987659C=	NCBI36
NG_016775.1:g.19021G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1522G= MANE Select	ENSP00000209873.4:p.Gly508=
ENST00000546562.6:n.2586G=
ENST00000547238.6:n.2158G=
ENST00000547520.6:n.1638G=
ENST00000547757.2:c.*440G=	ENSP00000448020.2:n.*440G=
ENST00000548931.6:c.957G=	ENSP00000457518.1:p.Gly319=
ENST00000549450.6:n.1456G=
ENST00000672797.1:n.2011G=
ENST00000209873.8:c.1522G=	ENSP00000209873.4:p.Gly508=
ENST00000394384.7:c.1423G=	ENSP00000377908.3:p.Gly475=
ENST00000548931.5:c.957G=	ENSP00000457518.1:p.Gly319=
ENST00000550286.5:c.1150G=	ENSP00000446885.1:p.Gly384=
ENST00000552876.5:n.1865G=
NM_001173466.1:c.1423G=	NP_001166937.1:p.Gly475=
NM_015665.5:c.1522G=	NP_056480.1:p.Gly508=
XM_006719617.2:c.1537G=	XP_006719680.1:p.Gly513=
XM_011538777.1:c.1579G=	XP_011537079.1:p.Gly527=
XM_011538778.1:c.1564G=	XP_011537080.1:p.Gly522=
XM_011538779.1:c.1480G=	XP_011537081.1:p.Gly494=
XM_011538780.1:c.1465G=	XP_011537082.1:p.Gly489=
XM_011538781.1:c.913G=	XP_011537083.1:p.Gly305=
XM_011538778.2:c.1564G=	XP_011537080.1:p.Gly522=
XM_011538780.2:c.1465G=	XP_011537082.1:p.Gly489=
XR_001748875.2:n.1579G=
NM_015665.6:c.1522G= MANE Select	NP_056480.1:p.Gly508=
NM_001173466.2:c.1423G=	NP_001166937.1:p.Gly475=