Canonical Allele Identifier: CA2058985275

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830800G= , CM000674.2:g.101830800G=	GRCh38
NC_000012.11:g.102224578G= , CM000674.1:g.102224578G=	GRCh37
NC_000012.10:g.100748709G=	NCBI36
NG_021243.1:g.5068C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-125C= MANE Select	ENSP00000299314.7:n.-125C=
ENST00000299314.11:c.-125C=	ENSP00000299314.7:n.-125C=
ENST00000392919.4:c.-125C=	ENSP00000376651.4:n.-125C=
ENST00000549940.5:c.-125C=	ENSP00000449150.1:n.-125C=
NM_024312.4:c.-125C=	NP_077288.2:n.-125C=
XM_006719593.2:c.-125C=	XP_006719656.1:n.-125C=
XM_006719593.3:c.-125C=	XP_006719656.1:n.-125C=
XM_017019961.1:c.-274C=	XP_016875450.1:n.-274C=
XM_017019962.2:c.-1475C=	XP_016875451.1:n.-1475C=
NM_024312.5:c.-125C= MANE Select	NP_077288.2:n.-125C=