Canonical Allele Identifier: CA394188380
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362612G>T , CM000678.2:g.1362612G>T GRCh38
NC_000016.9:g.1412613G>T , CM000678.1:g.1412613G>T GRCh37
NC_000016.8:g.1352614G>T NCBI36
NG_016985.1:g.15714G>T
NG_033129.1:g.57093C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.710G>T
ENST00000529110.2:c.695G>T ENSP00000435349.2:p.Gly232Val
ENST00000529957.6:n.669G>T
ENST00000683366.1:c.*343G>T ENSP00000507283.1:n.*343G>T
ENST00000683887.1:c.659G>T ENSP00000506886.1:p.Gly220Val
ENST00000684100.1:n.605G>T
ENST00000684126.1:n.745G>T
ENST00000684688.1:n.1236G>T
ENST00000204679.9:c.611G>T MANE Select ENSP00000204679.4:p.Gly204Val
ENST00000204679.8:c.611G>T ENSP00000204679.4:p.Gly204Val
ENST00000527076.1:n.1834G>T
ENST00000527168.5:n.778G>T
ENST00000529957.5:n.710G>T
NM_032520.4:c.611G>T NP_115909.1:p.Gly204Val
XM_017023782.1:c.659G>T XP_016879271.1:p.Gly220Val
XM_017023783.1:c.251G>T XP_016879272.1:p.Gly84Val
NM_032520.5:c.611G>T MANE Select NP_115909.1:p.Gly204Val