Canonical Allele Identifier: CA2201614055
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361876A= , CM000678.2:g.1361876A= GRCh38
NC_000016.9:g.1411877A= , CM000678.1:g.1411877A= GRCh37
NC_000016.8:g.1351878A= NCBI36
NG_016985.1:g.14978A=
NG_033129.1:g.57829T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.337A=
ENST00000529110.2:c.322A= ENSP00000435349.2:p.Lys108=
ENST00000529957.6:n.296A=
ENST00000683366.1:c.183A= ENSP00000507283.1:p.Thr61=
ENST00000683887.1:c.286A= ENSP00000506886.1:p.Lys96=
ENST00000684100.1:n.232A=
ENST00000684126.1:n.296A=
ENST00000684688.1:n.863A=
ENST00000204679.9:c.238A= MANE Select ENSP00000204679.4:p.Lys80=
ENST00000204679.8:c.238A= ENSP00000204679.4:p.Lys80=
ENST00000526820.5:c.*140A= ENSP00000434413.1:n.*140A=
ENST00000527076.1:n.1254A=
ENST00000527168.5:n.274A=
ENST00000529110.1:c.305A=
ENST00000529957.5:n.337A=
NM_032520.4:c.238A= NP_115909.1:p.Lys80=
XM_017023782.1:c.286A= XP_016879271.1:p.Lys96=
XM_017023783.1:c.-123A= XP_016879272.1:n.-123A=
NM_032520.5:c.238A= MANE Select NP_115909.1:p.Lys80=