Canonical Allele Identifier: CA2695221402

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362308dup , CM000678.2:g.1362308dup	GRCh38
NC_000016.9:g.1412309dup , CM000678.1:g.1412309dup	GRCh37
NC_000016.8:g.1352310dup	NCBI36
NG_016985.1:g.15410dup
NG_033129.1:g.57401dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.613dup
ENST00000529110.2:c.598dup	ENSP00000435349.2:p.His200ProfsTer27
ENST00000529957.6:n.572dup
ENST00000683366.1:c.*246dup	ENSP00000507283.1:n.*246dup
ENST00000683887.1:c.562dup	ENSP00000506886.1:p.His188ProfsTer27
ENST00000684100.1:n.508dup
ENST00000684126.1:n.572dup
ENST00000684688.1:n.1139dup
ENST00000204679.9:c.514dup MANE Select	ENSP00000204679.4:p.His172ProfsTer27
ENST00000204679.8:c.514dup	ENSP00000204679.4:p.His172ProfsTer27
ENST00000527076.1:n.1530dup
ENST00000527168.5:n.550dup
ENST00000529957.5:n.613dup
NM_032520.4:c.514dup	NP_115909.1:p.His172ProfsTer27
XM_017023782.1:c.562dup	XP_016879271.1:p.His188ProfsTer27
XM_017023783.1:c.154dup	XP_016879272.1:p.His52ProfsTer27
NM_032520.5:c.514dup MANE Select	NP_115909.1:p.His172ProfsTer27