Canonical Allele Identifier: CA973711347

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034914525
• gnomAD v3: 16-1362394-T-TG
• gnomAD v4: 16-1362394-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362399dup , CM000678.2:g.1362399dup	GRCh38
NC_000016.9:g.1412400dup , CM000678.1:g.1412400dup	GRCh37
NC_000016.8:g.1352401dup	NCBI36
NG_016985.1:g.15501dup
NG_033129.1:g.57310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-53dup
ENST00000529110.2:c.611-53dup	ENSP00000435349.2:n.611-53dup
ENST00000529957.6:n.585-53dup
ENST00000683366.1:c.*259-53dup	ENSP00000507283.1:n.*259-53dup
ENST00000683887.1:c.575-53dup	ENSP00000506886.1:n.575-53dup
ENST00000684100.1:n.521-53dup
ENST00000684126.1:n.585-53dup
ENST00000684688.1:n.1152-53dup
ENST00000204679.9:c.527-53dup MANE Select	ENSP00000204679.4:n.527-53dup
ENST00000204679.8:c.527-53dup	ENSP00000204679.4:n.527-53dup
ENST00000527076.1:n.1621dup
ENST00000527168.5:n.641dup
ENST00000529957.5:n.626-53dup
NM_032520.4:c.527-53dup	NP_115909.1:n.527-53dup
XM_017023782.1:c.575-53dup	XP_016879271.1:n.575-53dup
XM_017023783.1:c.167-53dup	XP_016879272.1:n.167-53dup
NM_032520.5:c.527-53dup MANE Select	NP_115909.1:n.527-53dup