Canonical Allele Identifier: CA2058953313

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761790C= , CM000674.2:g.101761790C=	GRCh38
NC_000012.11:g.102155568C= , CM000674.1:g.102155568C=	GRCh37
NC_000012.10:g.100679699C=	NCBI36
NG_021243.1:g.74078G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-27G= MANE Select	ENSP00000299314.7:n.2716-27G=
ENST00000299314.11:c.2716-27G=	ENSP00000299314.7:n.2716-27G=
NM_024312.4:c.2716-27G=	NP_077288.2:n.2716-27G=
XM_006719593.2:c.2716-27G=	XP_006719656.1:n.2716-27G=
XM_011538731.1:c.2635-27G=	XP_011537033.1:n.2635-27G=
XM_006719593.3:c.2716-27G=	XP_006719656.1:n.2716-27G=
XM_011538731.2:c.2635-27G=	XP_011537033.1:n.2635-27G=
XM_017019961.1:c.2500-27G=	XP_016875450.1:n.2500-27G=
XM_017019962.2:c.1489-27G=	XP_016875451.1:n.1489-27G=
NM_024312.5:c.2716-27G= MANE Select	NP_077288.2:n.2716-27G=