Canonical Allele Identifier: CA2058964768

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785997A= , CM000674.2:g.101785997A=	GRCh38
NC_000012.11:g.102179775A= , CM000674.1:g.102179775A=	GRCh37
NC_000012.10:g.100703906A=	NCBI36
NG_021243.1:g.49871T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+15T= MANE Select	ENSP00000299314.7:n.571+15T=
ENST00000299314.11:c.571+15T=	ENSP00000299314.7:n.571+15T=
ENST00000549940.5:c.571+15T=	ENSP00000449150.1:n.571+15T=
ENST00000550352.1:n.380T=
ENST00000552681.1:c.205+15T=	ENSP00000449217.1:n.205+15T=
NM_024312.4:c.571+15T=	NP_077288.2:n.571+15T=
XM_006719593.2:c.571+15T=	XP_006719656.1:n.571+15T=
XM_011538731.1:c.490+15T=	XP_011537033.1:n.490+15T=
XM_006719593.3:c.571+15T=	XP_006719656.1:n.571+15T=
XM_011538731.2:c.490+15T=	XP_011537033.1:n.490+15T=
XM_017019961.1:c.355+15T=	XP_016875450.1:n.355+15T=
XM_017019962.2:c.-780+15T=	XP_016875451.1:n.-780+15T=
NM_024312.5:c.571+15T= MANE Select	NP_077288.2:n.571+15T=