Canonical Allele Identifier: CA2201614884
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362217G= , CM000678.2:g.1362217G= GRCh38
NC_000016.9:g.1412218G= , CM000678.1:g.1412218G= GRCh37
NC_000016.8:g.1352219G= NCBI36
NG_016985.1:g.15319G=
NG_033129.1:g.57488C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.522G=
ENST00000529110.2:c.507G= ENSP00000435349.2:p.Ala169=
ENST00000529957.6:n.481G=
ENST00000683366.1:c.*155G= ENSP00000507283.1:n.*155G=
ENST00000683887.1:c.471G= ENSP00000506886.1:p.Ala157=
ENST00000684100.1:n.417G=
ENST00000684126.1:n.481G=
ENST00000684688.1:n.1048G=
ENST00000204679.9:c.423G= MANE Select ENSP00000204679.4:p.Ala141=
ENST00000204679.8:c.423G= ENSP00000204679.4:p.Ala141=
ENST00000527076.1:n.1439G=
ENST00000527168.5:n.459G=
ENST00000529110.1:c.490G=
ENST00000529957.5:n.522G=
NM_032520.4:c.423G= NP_115909.1:p.Ala141=
XM_017023782.1:c.471G= XP_016879271.1:p.Ala157=
XM_017023783.1:c.63G= XP_016879272.1:p.Ala21=
NM_032520.5:c.423G= MANE Select NP_115909.1:p.Ala141=