Canonical Allele Identifier: CA2058952335

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757572C= , CM000674.2:g.101757572C=	GRCh38
NC_000012.11:g.102151350C= , CM000674.1:g.102151350C=	GRCh37
NC_000012.10:g.100675481C=	NCBI36
NG_021243.1:g.78296G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3335G= MANE Select	ENSP00000299314.7:p.Arg1112=
ENST00000299314.11:c.3335G=	ENSP00000299314.7:p.Arg1112=
ENST00000549194.1:n.201G=
ENST00000549738.5:c.86G=	ENSP00000450161.1:p.Arg29=
ENST00000550718.1:c.147G=
NM_024312.4:c.3335G=	NP_077288.2:p.Arg1112=
XM_006719593.2:c.3335G=	XP_006719656.1:p.Arg1112=
XM_011538731.1:c.3254G=	XP_011537033.1:p.Arg1085=
XM_006719593.3:c.3335G=	XP_006719656.1:p.Arg1112=
XM_011538731.2:c.3254G=	XP_011537033.1:p.Arg1085=
XM_017019961.1:c.3119G=	XP_016875450.1:p.Arg1040=
XM_017019962.2:c.2108G=	XP_016875451.1:p.Arg703=
NM_024312.5:c.3335G= MANE Select	NP_077288.2:p.Arg1112=