Canonical Allele Identifier: CA2058957899

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770202C= , CM000674.2:g.101770202C=	GRCh38
NC_000012.11:g.102163980C= , CM000674.1:g.102163980C=	GRCh37
NC_000012.10:g.100688111C=	NCBI36
NG_021243.1:g.65666G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1114-11G= MANE Select	ENSP00000299314.7:n.1114-11G=
ENST00000299314.11:c.1114-11G=	ENSP00000299314.7:n.1114-11G=
ENST00000549940.5:c.1114-11G=	ENSP00000449150.1:n.1114-11G=
NM_024312.4:c.1114-11G=	NP_077288.2:n.1114-11G=
XM_006719593.2:c.1114-11G=	XP_006719656.1:n.1114-11G=
XM_011538731.1:c.1033-11G=	XP_011537033.1:n.1033-11G=
XM_006719593.3:c.1114-11G=	XP_006719656.1:n.1114-11G=
XM_011538731.2:c.1033-11G=	XP_011537033.1:n.1033-11G=
XM_017019961.1:c.898-11G=	XP_016875450.1:n.898-11G=
XM_017019962.2:c.-114-11G=	XP_016875451.1:n.-114-11G=
NM_024312.5:c.1114-11G= MANE Select	NP_077288.2:n.1114-11G=