Canonical Allele Identifier: CA2201614455
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362038C= , CM000678.2:g.1362038C= GRCh38
NC_000016.9:g.1412039C= , CM000678.1:g.1412039C= GRCh37
NC_000016.8:g.1352040C= NCBI36
NG_016985.1:g.15140C=
NG_033129.1:g.57667G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.417C=
ENST00000529110.2:c.402C= ENSP00000435349.2:p.Gly134=
ENST00000529957.6:n.376C=
ENST00000683366.1:c.*50C= ENSP00000507283.1:n.*50C=
ENST00000683887.1:c.366C= ENSP00000506886.1:p.Gly122=
ENST00000684100.1:n.312C=
ENST00000684126.1:n.376C=
ENST00000684688.1:n.943C=
ENST00000204679.9:c.318C= MANE Select ENSP00000204679.4:p.Gly106=
ENST00000204679.8:c.318C= ENSP00000204679.4:p.Gly106=
ENST00000526820.5:c.*220C= ENSP00000434413.1:n.*220C=
ENST00000527076.1:n.1334C=
ENST00000527168.5:n.354C=
ENST00000529110.1:c.385C=
ENST00000529957.5:n.417C=
NM_032520.4:c.318C= NP_115909.1:p.Gly106=
XM_017023782.1:c.366C= XP_016879271.1:p.Gly122=
XM_017023783.1:c.-43C= XP_016879272.1:n.-43C=
NM_032520.5:c.318C= MANE Select NP_115909.1:p.Gly106=