Canonical Allele Identifier: CA2201614584
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362080C= , CM000678.2:g.1362080C= GRCh38
NC_000016.9:g.1412081C= , CM000678.1:g.1412081C= GRCh37
NC_000016.8:g.1352082C= NCBI36
NG_016985.1:g.15182C=
NG_033129.1:g.57625G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.459C=
ENST00000529110.2:c.444C= ENSP00000435349.2:p.Gly148=
ENST00000529957.6:n.418C=
ENST00000683366.1:c.*92C= ENSP00000507283.1:n.*92C=
ENST00000683887.1:c.408C= ENSP00000506886.1:p.Gly136=
ENST00000684100.1:n.354C=
ENST00000684126.1:n.418C=
ENST00000684688.1:n.985C=
ENST00000204679.9:c.360C= MANE Select ENSP00000204679.4:p.Gly120=
ENST00000204679.8:c.360C= ENSP00000204679.4:p.Gly120=
ENST00000526820.5:c.*262C= ENSP00000434413.1:n.*262C=
ENST00000527076.1:n.1376C=
ENST00000527168.5:n.396C=
ENST00000529110.1:c.427C=
ENST00000529957.5:n.459C=
NM_032520.4:c.360C= NP_115909.1:p.Gly120=
XM_017023782.1:c.408C= XP_016879271.1:p.Gly136=
XM_017023783.1:c.-1C= XP_016879272.1:n.-1C=
NM_032520.5:c.360C= MANE Select NP_115909.1:p.Gly120=