Canonical Allele Identifier: CA2058955600

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764903C= , CM000674.2:g.101764903C=	GRCh38
NC_000012.11:g.102158681C= , CM000674.1:g.102158681C=	GRCh37
NC_000012.10:g.100682812C=	NCBI36
NG_021243.1:g.70965G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2014G= MANE Select	ENSP00000299314.7:p.Glu672=
ENST00000299314.11:c.2014G=	ENSP00000299314.7:p.Glu672=
NM_024312.4:c.2014G=	NP_077288.2:p.Glu672=
XM_006719593.2:c.2014G=	XP_006719656.1:p.Glu672=
XM_011538731.1:c.1933G=	XP_011537033.1:p.Glu645=
XM_006719593.3:c.2014G=	XP_006719656.1:p.Glu672=
XM_011538731.2:c.1933G=	XP_011537033.1:p.Glu645=
XM_017019961.1:c.1798G=	XP_016875450.1:p.Glu600=
XM_017019962.2:c.787G=	XP_016875451.1:p.Glu263=
NM_024312.5:c.2014G= MANE Select	NP_077288.2:p.Glu672=