Canonical Allele Identifier: CA2058954205

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760053C= , CM000674.2:g.101760053C=	GRCh38
NC_000012.11:g.102153831C= , CM000674.1:g.102153831C=	GRCh37
NC_000012.10:g.100677962C=	NCBI36
NG_021243.1:g.75815G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3226G= MANE Select	ENSP00000299314.7:p.Glu1076=
ENST00000299314.11:c.3226G=	ENSP00000299314.7:p.Glu1076=
ENST00000549194.1:n.92G=
ENST00000550718.1:c.38G=
NM_024312.4:c.3226G=	NP_077288.2:p.Glu1076=
XM_006719593.2:c.3226G=	XP_006719656.1:p.Glu1076=
XM_011538731.1:c.3145G=	XP_011537033.1:p.Glu1049=
XM_006719593.3:c.3226G=	XP_006719656.1:p.Glu1076=
XM_011538731.2:c.3145G=	XP_011537033.1:p.Glu1049=
XM_017019961.1:c.3010G=	XP_016875450.1:p.Glu1004=
XM_017019962.2:c.1999G=	XP_016875451.1:p.Glu667=
NM_024312.5:c.3226G= MANE Select	NP_077288.2:p.Glu1076=