Canonical Allele Identifier: CA2201614165
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361919A= , CM000678.2:g.1361919A= GRCh38
NC_000016.9:g.1411920A= , CM000678.1:g.1411920A= GRCh37
NC_000016.8:g.1351921A= NCBI36
NG_016985.1:g.15021A=
NG_033129.1:g.57786T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.380A=
ENST00000529110.2:c.365A= ENSP00000435349.2:p.Gln122=
ENST00000529957.6:n.339A=
ENST00000683366.1:c.*13A= ENSP00000507283.1:n.*13A=
ENST00000683887.1:c.329A= ENSP00000506886.1:p.Gln110=
ENST00000684100.1:n.275A=
ENST00000684126.1:n.339A=
ENST00000684688.1:n.906A=
ENST00000204679.9:c.281A= MANE Select ENSP00000204679.4:p.Gln94=
ENST00000204679.8:c.281A= ENSP00000204679.4:p.Gln94=
ENST00000526820.5:c.*183A= ENSP00000434413.1:n.*183A=
ENST00000527076.1:n.1297A=
ENST00000527168.5:n.317A=
ENST00000529110.1:c.348A=
ENST00000529957.5:n.380A=
NM_032520.4:c.281A= NP_115909.1:p.Gln94=
XM_017023782.1:c.329A= XP_016879271.1:p.Gln110=
XM_017023783.1:c.-80A= XP_016879272.1:n.-80A=
NM_032520.5:c.281A= MANE Select NP_115909.1:p.Gln94=