Canonical Allele Identifier: CA2058955571

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764844T= , CM000674.2:g.101764844T=	GRCh38
NC_000012.11:g.102158622T= , CM000674.1:g.102158622T=	GRCh37
NC_000012.10:g.100682753T=	NCBI36
NG_021243.1:g.71024A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2073A= MANE Select	ENSP00000299314.7:p.Glu691=
ENST00000299314.11:c.2073A=	ENSP00000299314.7:p.Glu691=
NM_024312.4:c.2073A=	NP_077288.2:p.Glu691=
XM_006719593.2:c.2073A=	XP_006719656.1:p.Glu691=
XM_011538731.1:c.1992A=	XP_011537033.1:p.Glu664=
XM_006719593.3:c.2073A=	XP_006719656.1:p.Glu691=
XM_011538731.2:c.1992A=	XP_011537033.1:p.Glu664=
XM_017019961.1:c.1857A=	XP_016875450.1:p.Glu619=
XM_017019962.2:c.846A=	XP_016875451.1:p.Glu282=
NM_024312.5:c.2073A= MANE Select	NP_077288.2:p.Glu691=