Canonical Allele Identifier: CA2058953200

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761720C= , CM000674.2:g.101761720C=	GRCh38
NC_000012.11:g.102155498C= , CM000674.1:g.102155498C=	GRCh37
NC_000012.10:g.100679629C=	NCBI36
NG_021243.1:g.74148G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2759G= MANE Select	ENSP00000299314.7:p.Ser920=
ENST00000299314.11:c.2759G=	ENSP00000299314.7:p.Ser920=
NM_024312.4:c.2759G=	NP_077288.2:p.Ser920=
XM_006719593.2:c.2759G=	XP_006719656.1:p.Ser920=
XM_011538731.1:c.2678G=	XP_011537033.1:p.Ser893=
XM_006719593.3:c.2759G=	XP_006719656.1:p.Ser920=
XM_011538731.2:c.2678G=	XP_011537033.1:p.Ser893=
XM_017019961.1:c.2543G=	XP_016875450.1:p.Ser848=
XM_017019962.2:c.1532G=	XP_016875451.1:p.Ser511=
NM_024312.5:c.2759G= MANE Select	NP_077288.2:p.Ser920=