Canonical Allele Identifier: CA2201614875
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362215G= , CM000678.2:g.1362215G= GRCh38
NC_000016.9:g.1412216G= , CM000678.1:g.1412216G= GRCh37
NC_000016.8:g.1352217G= NCBI36
NG_016985.1:g.15317G=
NG_033129.1:g.57490C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.520G=
ENST00000529110.2:c.505G= ENSP00000435349.2:p.Ala169=
ENST00000529957.6:n.479G=
ENST00000683366.1:c.*153G= ENSP00000507283.1:n.*153G=
ENST00000683887.1:c.469G= ENSP00000506886.1:p.Ala157=
ENST00000684100.1:n.415G=
ENST00000684126.1:n.479G=
ENST00000684688.1:n.1046G=
ENST00000204679.9:c.421G= MANE Select ENSP00000204679.4:p.Ala141=
ENST00000204679.8:c.421G= ENSP00000204679.4:p.Ala141=
ENST00000527076.1:n.1437G=
ENST00000527168.5:n.457G=
ENST00000529110.1:c.488G=
ENST00000529957.5:n.520G=
NM_032520.4:c.421G= NP_115909.1:p.Ala141=
XM_017023782.1:c.469G= XP_016879271.1:p.Ala157=
XM_017023783.1:c.61G= XP_016879272.1:p.Ala21=
NM_032520.5:c.421G= MANE Select NP_115909.1:p.Ala141=