Canonical Allele Identifier: CA2201614087
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361892C= , CM000678.2:g.1361892C= GRCh38
NC_000016.9:g.1411893C= , CM000678.1:g.1411893C= GRCh37
NC_000016.8:g.1351894C= NCBI36
NG_016985.1:g.14994C=
NG_033129.1:g.57813G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.353C=
ENST00000529110.2:c.338C= ENSP00000435349.2:p.Pro113=
ENST00000529957.6:n.312C=
ENST00000683366.1:c.199C= ENSP00000507283.1:p.Arg67=
ENST00000683887.1:c.302C= ENSP00000506886.1:p.Pro101=
ENST00000684100.1:n.248C=
ENST00000684126.1:n.312C=
ENST00000684688.1:n.879C=
ENST00000204679.9:c.254C= MANE Select ENSP00000204679.4:p.Pro85=
ENST00000204679.8:c.254C= ENSP00000204679.4:p.Pro85=
ENST00000526820.5:c.*156C= ENSP00000434413.1:n.*156C=
ENST00000527076.1:n.1270C=
ENST00000527168.5:n.290C=
ENST00000529110.1:c.321C=
ENST00000529957.5:n.353C=
NM_032520.4:c.254C= NP_115909.1:p.Pro85=
XM_017023782.1:c.302C= XP_016879271.1:p.Pro101=
XM_017023783.1:c.-107C= XP_016879272.1:n.-107C=
NM_032520.5:c.254C= MANE Select NP_115909.1:p.Pro85=