Canonical Allele Identifier: CA2201614507
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362050G= , CM000678.2:g.1362050G= GRCh38
NC_000016.9:g.1412051G= , CM000678.1:g.1412051G= GRCh37
NC_000016.8:g.1352052G= NCBI36
NG_016985.1:g.15152G=
NG_033129.1:g.57655C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.429G=
ENST00000529110.2:c.414G= ENSP00000435349.2:p.Glu138=
ENST00000529957.6:n.388G=
ENST00000683366.1:c.*62G= ENSP00000507283.1:n.*62G=
ENST00000683887.1:c.378G= ENSP00000506886.1:p.Glu126=
ENST00000684100.1:n.324G=
ENST00000684126.1:n.388G=
ENST00000684688.1:n.955G=
ENST00000204679.9:c.330G= MANE Select ENSP00000204679.4:p.Glu110=
ENST00000204679.8:c.330G= ENSP00000204679.4:p.Glu110=
ENST00000526820.5:c.*232G= ENSP00000434413.1:n.*232G=
ENST00000527076.1:n.1346G=
ENST00000527168.5:n.366G=
ENST00000529110.1:c.397G=
ENST00000529957.5:n.429G=
NM_032520.4:c.330G= NP_115909.1:p.Glu110=
XM_017023782.1:c.378G= XP_016879271.1:p.Glu126=
XM_017023783.1:c.-31G= XP_016879272.1:n.-31G=
NM_032520.5:c.330G= MANE Select NP_115909.1:p.Glu110=