Canonical Allele Identifier: CA2630958164

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361702-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361702C>A , CM000678.2:g.1361702C>A	GRCh38
NC_000016.9:g.1411703C>A , CM000678.1:g.1411703C>A	GRCh37
NC_000016.8:g.1351704C>A	NCBI36
NG_016985.1:g.14804C>A
NG_033129.1:g.58003G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-41C>A
ENST00000529110.2:c.263-41C>A	ENSP00000435349.2:n.263-41C>A
ENST00000529957.6:n.237-41C>A
ENST00000683366.1:c.179-170C>A	ENSP00000507283.1:n.179-170C>A
ENST00000683887.1:c.186C>A	ENSP00000506886.1:p.Phe62Leu
ENST00000684100.1:n.58C>A
ENST00000684126.1:n.237-41C>A
ENST00000684688.1:n.763C>A
ENST00000204679.9:c.179-41C>A MANE Select	ENSP00000204679.4:n.179-41C>A
ENST00000204679.8:c.179-41C>A	ENSP00000204679.4:n.179-41C>A
ENST00000526820.5:c.*81-41C>A	ENSP00000434413.1:n.*81-41C>A
ENST00000527076.1:n.1080C>A
ENST00000527168.5:n.270-170C>A
ENST00000529110.1:c.246-41C>A
ENST00000529957.5:n.278-41C>A
NM_032520.4:c.179-41C>A	NP_115909.1:n.179-41C>A
XM_017023782.1:c.186C>A	XP_016879271.1:p.Phe62Leu
XM_017023783.1:c.-182-41C>A	XP_016879272.1:n.-182-41C>A
NM_032520.5:c.179-41C>A MANE Select	NP_115909.1:n.179-41C>A