Canonical Allele Identifier: CA2058952189

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757254G= , CM000674.2:g.101757254G=	GRCh38
NC_000012.11:g.102151032G= , CM000674.1:g.102151032G=	GRCh37
NC_000012.10:g.100675163G=	NCBI36
NG_021243.1:g.78614C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3392C= MANE Select	ENSP00000299314.7:p.Ser1131=
ENST00000299314.11:c.3392C=	ENSP00000299314.7:p.Ser1131=
ENST00000549194.1:n.258C=
ENST00000549738.5:c.143C=	ENSP00000450161.1:p.Ser48=
ENST00000550718.1:c.204C=
NM_024312.4:c.3392C=	NP_077288.2:p.Ser1131=
XM_006719593.2:c.3392C=	XP_006719656.1:p.Ser1131=
XM_011538731.1:c.3311C=	XP_011537033.1:p.Ser1104=
XM_006719593.3:c.3392C=	XP_006719656.1:p.Ser1131=
XM_011538731.2:c.3311C=	XP_011537033.1:p.Ser1104=
XM_017019961.1:c.3176C=	XP_016875450.1:p.Ser1059=
XM_017019962.2:c.2165C=	XP_016875451.1:p.Ser722=
NM_024312.5:c.3392C= MANE Select	NP_077288.2:p.Ser1131=