Canonical Allele Identifier: CA7807717
Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 840086
dbSNP Id: rs138018487
gnomAD v2: 16-1412267-G-A
gnomAD v3: 16-1362266-G-A
gnomAD v4: 16-1362266-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362266G>A , CM000678.2:g.1362266G>A GRCh38
NC_000016.9:g.1412267G>A , CM000678.1:g.1412267G>A GRCh37
NC_000016.8:g.1352268G>A NCBI36
NG_016985.1:g.15368G>A
NG_033129.1:g.57439C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.571G>A
ENST00000529110.2:c.556G>A ENSP00000435349.2:p.Val186Ile
ENST00000529957.6:n.530G>A
ENST00000683366.1:c.*204G>A ENSP00000507283.1:n.*204G>A
ENST00000683887.1:c.520G>A ENSP00000506886.1:p.Val174Ile
ENST00000684100.1:n.466G>A
ENST00000684126.1:n.530G>A
ENST00000684688.1:n.1097G>A
ENST00000204679.9:c.472G>A MANE Select ENSP00000204679.4:p.Val158Ile
ENST00000204679.8:c.472G>A ENSP00000204679.4:p.Val158Ile
ENST00000527076.1:n.1488G>A
ENST00000527168.5:n.508G>A
ENST00000529110.1:c.539G>A
ENST00000529957.5:n.571G>A
NM_032520.4:c.472G>A NP_115909.1:p.Val158Ile
XM_017023782.1:c.520G>A XP_016879271.1:p.Val174Ile
XM_017023783.1:c.112G>A XP_016879272.1:p.Val38Ile
NM_032520.5:c.472G>A MANE Select NP_115909.1:p.Val158Ile