Canonical Allele Identifier: CA2058950550

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753414T= , CM000674.2:g.101753414T=	GRCh38
NC_000012.11:g.102147192T= , CM000674.1:g.102147192T=	GRCh37
NC_000012.10:g.100671323T=	NCBI36
NG_021243.1:g.82454A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3560A= MANE Select	ENSP00000299314.7:p.Glu1187=
ENST00000299314.11:c.3560A=	ENSP00000299314.7:p.Glu1187=
ENST00000549738.5:c.458A=	ENSP00000450161.1:n.458A=
NM_024312.4:c.3560A=	NP_077288.2:p.Glu1187=
XM_011538731.1:c.3479A=	XP_011537033.1:p.Glu1160=
XM_011538731.2:c.3479A=	XP_011537033.1:p.Glu1160=
XM_017019961.1:c.3344A=	XP_016875450.1:p.Glu1115=
XM_017019962.2:c.2333A=	XP_016875451.1:p.Glu778=
NM_024312.5:c.3560A= MANE Select	NP_077288.2:p.Glu1187=