Canonical Allele Identifier: CA2058953317

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761792G= , CM000674.2:g.101761792G=	GRCh38
NC_000012.11:g.102155570G= , CM000674.1:g.102155570G=	GRCh37
NC_000012.10:g.100679701G=	NCBI36
NG_021243.1:g.74076C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-29C= MANE Select	ENSP00000299314.7:n.2716-29C=
ENST00000299314.11:c.2716-29C=	ENSP00000299314.7:n.2716-29C=
NM_024312.4:c.2716-29C=	NP_077288.2:n.2716-29C=
XM_006719593.2:c.2716-29C=	XP_006719656.1:n.2716-29C=
XM_011538731.1:c.2635-29C=	XP_011537033.1:n.2635-29C=
XM_006719593.3:c.2716-29C=	XP_006719656.1:n.2716-29C=
XM_011538731.2:c.2635-29C=	XP_011537033.1:n.2635-29C=
XM_017019961.1:c.2500-29C=	XP_016875450.1:n.2500-29C=
XM_017019962.2:c.1489-29C=	XP_016875451.1:n.1489-29C=
NM_024312.5:c.2716-29C= MANE Select	NP_077288.2:n.2716-29C=