Canonical Allele Identifier: CA2575866947

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2904576
• ClinVar RCV Id: RCV003729355
• gnomAD v4: 16-1362758-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362758G>T , CM000678.2:g.1362758G>T	GRCh38
NC_000016.9:g.1412759G>T , CM000678.1:g.1412759G>T	GRCh37
NC_000016.8:g.1352760G>T	NCBI36
NG_016985.1:g.15860G>T
NG_033129.1:g.56947C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.840+16G>T
ENST00000529110.2:c.825+16G>T	ENSP00000435349.2:n.825+16G>T
ENST00000529957.6:n.799+16G>T
ENST00000683366.1:c.*473+16G>T	ENSP00000507283.1:n.*473+16G>T
ENST00000683887.1:c.789+16G>T	ENSP00000506886.1:n.789+16G>T
ENST00000684100.1:n.735+16G>T
ENST00000684126.1:n.875+16G>T
ENST00000684688.1:n.1366+16G>T
ENST00000204679.9:c.741+16G>T MANE Select	ENSP00000204679.4:n.741+16G>T
ENST00000204679.8:c.741+16G>T	ENSP00000204679.4:n.741+16G>T
ENST00000527076.1:n.1964+16G>T
ENST00000527168.5:n.908+16G>T
ENST00000529957.5:n.840+16G>T
NM_032520.4:c.741+16G>T	NP_115909.1:n.741+16G>T
XM_017023782.1:c.789+16G>T	XP_016879271.1:n.789+16G>T
XM_017023783.1:c.381+16G>T	XP_016879272.1:n.381+16G>T
NM_032520.5:c.741+16G>T MANE Select	NP_115909.1:n.741+16G>T