Canonical Allele Identifier: CA2058964608

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785590G= , CM000674.2:g.101785590G=	GRCh38
NC_000012.11:g.102179368G= , CM000674.1:g.102179368G=	GRCh37
NC_000012.10:g.100703499G=	NCBI36
NG_021243.1:g.50278C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+422C= MANE Select	ENSP00000299314.7:n.571+422C=
ENST00000299314.11:c.571+422C=	ENSP00000299314.7:n.571+422C=
ENST00000549940.5:c.571+422C=	ENSP00000449150.1:n.571+422C=
ENST00000550352.1:n.787C=
ENST00000552681.1:c.205+422C=	ENSP00000449217.1:n.205+422C=
NM_024312.4:c.571+422C=	NP_077288.2:n.571+422C=
XM_006719593.2:c.571+422C=	XP_006719656.1:n.571+422C=
XM_011538731.1:c.490+422C=	XP_011537033.1:n.490+422C=
XM_006719593.3:c.571+422C=	XP_006719656.1:n.571+422C=
XM_011538731.2:c.490+422C=	XP_011537033.1:n.490+422C=
XM_017019961.1:c.355+422C=	XP_016875450.1:n.355+422C=
XM_017019962.2:c.-780+422C=	XP_016875451.1:n.-780+422C=
NM_024312.5:c.571+422C= MANE Select	NP_077288.2:n.571+422C=