Canonical Allele Identifier: CA2201614501
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362048G= , CM000678.2:g.1362048G= GRCh38
NC_000016.9:g.1412049G= , CM000678.1:g.1412049G= GRCh37
NC_000016.8:g.1352050G= NCBI36
NG_016985.1:g.15150G=
NG_033129.1:g.57657C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.427G=
ENST00000529110.2:c.412G= ENSP00000435349.2:p.Glu138=
ENST00000529957.6:n.386G=
ENST00000683366.1:c.*60G= ENSP00000507283.1:n.*60G=
ENST00000683887.1:c.376G= ENSP00000506886.1:p.Glu126=
ENST00000684100.1:n.322G=
ENST00000684126.1:n.386G=
ENST00000684688.1:n.953G=
ENST00000204679.9:c.328G= MANE Select ENSP00000204679.4:p.Glu110=
ENST00000204679.8:c.328G= ENSP00000204679.4:p.Glu110=
ENST00000526820.5:c.*230G= ENSP00000434413.1:n.*230G=
ENST00000527076.1:n.1344G=
ENST00000527168.5:n.364G=
ENST00000529110.1:c.395G=
ENST00000529957.5:n.427G=
NM_032520.4:c.328G= NP_115909.1:p.Glu110=
XM_017023782.1:c.376G= XP_016879271.1:p.Glu126=
XM_017023783.1:c.-33G= XP_016879272.1:n.-33G=
NM_032520.5:c.328G= MANE Select NP_115909.1:p.Glu110=