Canonical Allele Identifier: CA2201614159
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361917G= , CM000678.2:g.1361917G= GRCh38
NC_000016.9:g.1411918G= , CM000678.1:g.1411918G= GRCh37
NC_000016.8:g.1351919G= NCBI36
NG_016985.1:g.15019G=
NG_033129.1:g.57788C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.378G=
ENST00000529110.2:c.363G= ENSP00000435349.2:p.Glu121=
ENST00000529957.6:n.337G=
ENST00000683366.1:c.*11G= ENSP00000507283.1:n.*11G=
ENST00000683887.1:c.327G= ENSP00000506886.1:p.Glu109=
ENST00000684100.1:n.273G=
ENST00000684126.1:n.337G=
ENST00000684688.1:n.904G=
ENST00000204679.9:c.279G= MANE Select ENSP00000204679.4:p.Glu93=
ENST00000204679.8:c.279G= ENSP00000204679.4:p.Glu93=
ENST00000526820.5:c.*181G= ENSP00000434413.1:n.*181G=
ENST00000527076.1:n.1295G=
ENST00000527168.5:n.315G=
ENST00000529110.1:c.346G=
ENST00000529957.5:n.378G=
NM_032520.4:c.279G= NP_115909.1:p.Glu93=
XM_017023782.1:c.327G= XP_016879271.1:p.Glu109=
XM_017023783.1:c.-82G= XP_016879272.1:n.-82G=
NM_032520.5:c.279G= MANE Select NP_115909.1:p.Glu93=