Canonical Allele Identifier: CA2058955561

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764820A= , CM000674.2:g.101764820A=	GRCh38
NC_000012.11:g.102158598A= , CM000674.1:g.102158598A=	GRCh37
NC_000012.10:g.100682729A=	NCBI36
NG_021243.1:g.71048T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2097T= MANE Select	ENSP00000299314.7:p.Asn699=
ENST00000299314.11:c.2097T=	ENSP00000299314.7:p.Asn699=
NM_024312.4:c.2097T=	NP_077288.2:p.Asn699=
XM_006719593.2:c.2097T=	XP_006719656.1:p.Asn699=
XM_011538731.1:c.2016T=	XP_011537033.1:p.Asn672=
XM_006719593.3:c.2097T=	XP_006719656.1:p.Asn699=
XM_011538731.2:c.2016T=	XP_011537033.1:p.Asn672=
XM_017019961.1:c.1881T=	XP_016875450.1:p.Asn627=
XM_017019962.2:c.870T=	XP_016875451.1:p.Asn290=
NM_024312.5:c.2097T= MANE Select	NP_077288.2:p.Asn699=