Canonical Allele Identifier: CA2058955326

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764247G= , CM000674.2:g.101764247G=	GRCh38
NC_000012.11:g.102158025G= , CM000674.1:g.102158025G=	GRCh37
NC_000012.10:g.100682156G=	NCBI36
NG_021243.1:g.71621C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2670C= MANE Select	ENSP00000299314.7:p.Gly890=
ENST00000299314.11:c.2670C=	ENSP00000299314.7:p.Gly890=
NM_024312.4:c.2670C=	NP_077288.2:p.Gly890=
XM_006719593.2:c.2670C=	XP_006719656.1:p.Gly890=
XM_011538731.1:c.2589C=	XP_011537033.1:p.Gly863=
XM_006719593.3:c.2670C=	XP_006719656.1:p.Gly890=
XM_011538731.2:c.2589C=	XP_011537033.1:p.Gly863=
XM_017019961.1:c.2454C=	XP_016875450.1:p.Gly818=
XM_017019962.2:c.1443C=	XP_016875451.1:p.Gly481=
NM_024312.5:c.2670C= MANE Select	NP_077288.2:p.Gly890=