Canonical Allele Identifier: CA2058958020

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770519G= , CM000674.2:g.101770519G=	GRCh38
NC_000012.11:g.102164297G= , CM000674.1:g.102164297G=	GRCh37
NC_000012.10:g.100688428G=	NCBI36
NG_021243.1:g.65349C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1000C= MANE Select	ENSP00000299314.7:p.Arg334=
ENST00000299314.11:c.1000C=	ENSP00000299314.7:p.Arg334=
ENST00000549940.5:c.1000C=	ENSP00000449150.1:p.Arg334=
NM_024312.4:c.1000C=	NP_077288.2:p.Arg334=
XM_006719593.2:c.1000C=	XP_006719656.1:p.Arg334=
XM_011538731.1:c.919C=	XP_011537033.1:p.Arg307=
XM_006719593.3:c.1000C=	XP_006719656.1:p.Arg334=
XM_011538731.2:c.919C=	XP_011537033.1:p.Arg307=
XM_017019961.1:c.784C=	XP_016875450.1:p.Arg262=
XM_017019962.2:c.-228C=	XP_016875451.1:n.-228C=
NM_024312.5:c.1000C= MANE Select	NP_077288.2:p.Arg334=