Canonical Allele Identifier: CA2630961599

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362764-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362765dup , CM000678.2:g.1362765dup	GRCh38
NC_000016.9:g.1412766dup , CM000678.1:g.1412766dup	GRCh37
NC_000016.8:g.1352767dup	NCBI36
NG_016985.1:g.15867dup
NG_033129.1:g.56940dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.840+23dup
ENST00000529110.2:c.825+23dup	ENSP00000435349.2:n.825+23dup
ENST00000529957.6:n.799+23dup
ENST00000683366.1:c.*473+23dup	ENSP00000507283.1:n.*473+23dup
ENST00000683887.1:c.789+23dup	ENSP00000506886.1:n.789+23dup
ENST00000684100.1:n.735+23dup
ENST00000684126.1:n.875+23dup
ENST00000684688.1:n.1366+23dup
ENST00000204679.9:c.741+23dup MANE Select	ENSP00000204679.4:n.741+23dup
ENST00000204679.8:c.741+23dup	ENSP00000204679.4:n.741+23dup
ENST00000527076.1:n.1964+23dup
ENST00000527168.5:n.908+23dup
ENST00000529957.5:n.840+23dup
NM_032520.4:c.741+23dup	NP_115909.1:n.741+23dup
XM_017023782.1:c.789+23dup	XP_016879271.1:n.789+23dup
XM_017023783.1:c.381+23dup	XP_016879272.1:n.381+23dup
NM_032520.5:c.741+23dup MANE Select	NP_115909.1:n.741+23dup