Canonical Allele Identifier: CA2058956991

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768127C= , CM000674.2:g.101768127C=	GRCh38
NC_000012.11:g.102161905C= , CM000674.1:g.102161905C=	GRCh37
NC_000012.10:g.100686036C=	NCBI36
NG_021243.1:g.67741G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1318G= MANE Select	ENSP00000299314.7:p.Glu440=
ENST00000299314.11:c.1318G=	ENSP00000299314.7:p.Glu440=
ENST00000549940.5:c.1318G=	ENSP00000449150.1:p.Glu440=
NM_024312.4:c.1318G=	NP_077288.2:p.Glu440=
XM_006719593.2:c.1318G=	XP_006719656.1:p.Glu440=
XM_011538731.1:c.1237G=	XP_011537033.1:p.Glu413=
XM_006719593.3:c.1318G=	XP_006719656.1:p.Glu440=
XM_011538731.2:c.1237G=	XP_011537033.1:p.Glu413=
XM_017019961.1:c.1102G=	XP_016875450.1:p.Glu368=
XM_017019962.2:c.91G=	XP_016875451.1:p.Glu31=
NM_024312.5:c.1318G= MANE Select	NP_077288.2:p.Glu440=