Canonical Allele Identifier: CA2058954328

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760123G= , CM000674.2:g.101760123G=	GRCh38
NC_000012.11:g.102153901G= , CM000674.1:g.102153901G=	GRCh37
NC_000012.10:g.100678032G=	NCBI36
NG_021243.1:g.75745C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3156C= MANE Select	ENSP00000299314.7:p.His1052=
ENST00000299314.11:c.3156C=	ENSP00000299314.7:p.His1052=
ENST00000549194.1:n.22C=
NM_024312.4:c.3156C=	NP_077288.2:p.His1052=
XM_006719593.2:c.3156C=	XP_006719656.1:p.His1052=
XM_011538731.1:c.3075C=	XP_011537033.1:p.His1025=
XM_006719593.3:c.3156C=	XP_006719656.1:p.His1052=
XM_011538731.2:c.3075C=	XP_011537033.1:p.His1025=
XM_017019961.1:c.2940C=	XP_016875450.1:p.His980=
XM_017019962.2:c.1929C=	XP_016875451.1:p.His643=
NM_024312.5:c.3156C= MANE Select	NP_077288.2:p.His1052=