Canonical Allele Identifier: CA2201614515
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362053G= , CM000678.2:g.1362053G= GRCh38
NC_000016.9:g.1412054G= , CM000678.1:g.1412054G= GRCh37
NC_000016.8:g.1352055G= NCBI36
NG_016985.1:g.15155G=
NG_033129.1:g.57652C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.432G=
ENST00000529110.2:c.417G= ENSP00000435349.2:p.Trp139=
ENST00000529957.6:n.391G=
ENST00000683366.1:c.*65G= ENSP00000507283.1:n.*65G=
ENST00000683887.1:c.381G= ENSP00000506886.1:p.Trp127=
ENST00000684100.1:n.327G=
ENST00000684126.1:n.391G=
ENST00000684688.1:n.958G=
ENST00000204679.9:c.333G= MANE Select ENSP00000204679.4:p.Trp111=
ENST00000204679.8:c.333G= ENSP00000204679.4:p.Trp111=
ENST00000526820.5:c.*235G= ENSP00000434413.1:n.*235G=
ENST00000527076.1:n.1349G=
ENST00000527168.5:n.369G=
ENST00000529110.1:c.400G=
ENST00000529957.5:n.432G=
NM_032520.4:c.333G= NP_115909.1:p.Trp111=
XM_017023782.1:c.381G= XP_016879271.1:p.Trp127=
XM_017023783.1:c.-28G= XP_016879272.1:n.-28G=
NM_032520.5:c.333G= MANE Select NP_115909.1:p.Trp111=