Canonical Allele Identifier: CA2565907879

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362580-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362580T>G , CM000678.2:g.1362580T>G	GRCh38
NC_000016.9:g.1412581T>G , CM000678.1:g.1412581T>G	GRCh37
NC_000016.8:g.1352582T>G	NCBI36
NG_016985.1:g.15682T>G
NG_033129.1:g.57125A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.709-31T>G
ENST00000529110.2:c.694-31T>G	ENSP00000435349.2:n.694-31T>G
ENST00000529957.6:n.668-31T>G
ENST00000683366.1:c.*342-31T>G	ENSP00000507283.1:n.*342-31T>G
ENST00000683887.1:c.658-31T>G	ENSP00000506886.1:n.658-31T>G
ENST00000684100.1:n.604-31T>G
ENST00000684126.1:n.713T>G
ENST00000684688.1:n.1235-31T>G
ENST00000204679.9:c.610-31T>G MANE Select	ENSP00000204679.4:n.610-31T>G
ENST00000204679.8:c.610-31T>G	ENSP00000204679.4:n.610-31T>G
ENST00000527076.1:n.1802T>G
ENST00000527168.5:n.777-31T>G
ENST00000529957.5:n.709-31T>G
NM_032520.4:c.610-31T>G	NP_115909.1:n.610-31T>G
XM_017023782.1:c.658-31T>G	XP_016879271.1:n.658-31T>G
XM_017023783.1:c.250-31T>G	XP_016879272.1:n.250-31T>G
NM_032520.5:c.610-31T>G MANE Select	NP_115909.1:n.610-31T>G