Canonical Allele Identifier: CA2058964819

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786091G= , CM000674.2:g.101786091G=	GRCh38
NC_000012.11:g.102179869G= , CM000674.1:g.102179869G=	GRCh37
NC_000012.10:g.100704000G=	NCBI36
NG_021243.1:g.49777C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.492C= MANE Select	ENSP00000299314.7:p.Ala164=
ENST00000299314.11:c.492C=	ENSP00000299314.7:p.Ala164=
ENST00000549940.5:c.492C=	ENSP00000449150.1:p.Ala164=
ENST00000550352.1:n.286C=
ENST00000552681.1:c.126C=	ENSP00000449217.1:p.Ala42=
NM_024312.4:c.492C=	NP_077288.2:p.Ala164=
XM_006719593.2:c.492C=	XP_006719656.1:p.Ala164=
XM_011538731.1:c.411C=	XP_011537033.1:p.Ala137=
XM_006719593.3:c.492C=	XP_006719656.1:p.Ala164=
XM_011538731.2:c.411C=	XP_011537033.1:p.Ala137=
XM_017019961.1:c.276C=	XP_016875450.1:p.Ala92=
XM_017019962.2:c.-859C=	XP_016875451.1:n.-859C=
NM_024312.5:c.492C= MANE Select	NP_077288.2:p.Ala164=