Canonical Allele Identifier: CA2573151710
Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 1583202
ClinVar RCV Id: RCV002091403
dbSNP Id: rs369333639
gnomAD v4: 16-1361864-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361864G>A , CM000678.2:g.1361864G>A GRCh38
NC_000016.9:g.1411865G>A , CM000678.1:g.1411865G>A GRCh37
NC_000016.8:g.1351866G>A NCBI36
NG_016985.1:g.14966G>A
NG_033129.1:g.57841C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.333-8G>A
ENST00000529110.2:c.318-8G>A ENSP00000435349.2:n.318-8G>A
ENST00000529957.6:n.292-8G>A
ENST00000683366.1:c.179-8G>A ENSP00000507283.1:n.179-8G>A
ENST00000683887.1:c.282-8G>A ENSP00000506886.1:n.282-8G>A
ENST00000684100.1:n.220G>A
ENST00000684126.1:n.292-8G>A
ENST00000684688.1:n.859-8G>A
ENST00000204679.9:c.234-8G>A MANE Select ENSP00000204679.4:n.234-8G>A
ENST00000204679.8:c.234-8G>A ENSP00000204679.4:n.234-8G>A
ENST00000526820.5:c.*136-8G>A ENSP00000434413.1:n.*136-8G>A
ENST00000527076.1:n.1242G>A
ENST00000527168.5:n.270-8G>A
ENST00000529110.1:c.301-8G>A
ENST00000529957.5:n.333-8G>A
NM_032520.4:c.234-8G>A NP_115909.1:n.234-8G>A
XM_017023782.1:c.282-8G>A XP_016879271.1:n.282-8G>A
XM_017023783.1:c.-127-8G>A XP_016879272.1:n.-127-8G>A
NM_032520.5:c.234-8G>A MANE Select NP_115909.1:n.234-8G>A