Canonical Allele Identifier: CA2058954209

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760056G= , CM000674.2:g.101760056G=	GRCh38
NC_000012.11:g.102153834G= , CM000674.1:g.102153834G=	GRCh37
NC_000012.10:g.100677965G=	NCBI36
NG_021243.1:g.75812C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3223C= MANE Select	ENSP00000299314.7:p.Gln1075=
ENST00000299314.11:c.3223C=	ENSP00000299314.7:p.Gln1075=
ENST00000549194.1:n.89C=
ENST00000550718.1:c.35C=
NM_024312.4:c.3223C=	NP_077288.2:p.Gln1075=
XM_006719593.2:c.3223C=	XP_006719656.1:p.Gln1075=
XM_011538731.1:c.3142C=	XP_011537033.1:p.Gln1048=
XM_006719593.3:c.3223C=	XP_006719656.1:p.Gln1075=
XM_011538731.2:c.3142C=	XP_011537033.1:p.Gln1048=
XM_017019961.1:c.3007C=	XP_016875450.1:p.Gln1003=
XM_017019962.2:c.1996C=	XP_016875451.1:p.Gln666=
NM_024312.5:c.3223C= MANE Select	NP_077288.2:p.Gln1075=