Canonical Allele Identifier: CA2058954202

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760050A= , CM000674.2:g.101760050A=	GRCh38
NC_000012.11:g.102153828A= , CM000674.1:g.102153828A=	GRCh37
NC_000012.10:g.100677959A=	NCBI36
NG_021243.1:g.75818T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3229T= MANE Select	ENSP00000299314.7:p.Ser1077=
ENST00000299314.11:c.3229T=	ENSP00000299314.7:p.Ser1077=
ENST00000549194.1:n.95T=
ENST00000550718.1:c.41T=
NM_024312.4:c.3229T=	NP_077288.2:p.Ser1077=
XM_006719593.2:c.3229T=	XP_006719656.1:p.Ser1077=
XM_011538731.1:c.3148T=	XP_011537033.1:p.Ser1050=
XM_006719593.3:c.3229T=	XP_006719656.1:p.Ser1077=
XM_011538731.2:c.3148T=	XP_011537033.1:p.Ser1050=
XM_017019961.1:c.3013T=	XP_016875450.1:p.Ser1005=
XM_017019962.2:c.2002T=	XP_016875451.1:p.Ser668=
NM_024312.5:c.3229T= MANE Select	NP_077288.2:p.Ser1077=