Canonical Allele Identifier: CA2201614986
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362258G= , CM000678.2:g.1362258G= GRCh38
NC_000016.9:g.1412259G= , CM000678.1:g.1412259G= GRCh37
NC_000016.8:g.1352260G= NCBI36
NG_016985.1:g.15360G=
NG_033129.1:g.57447C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.563G=
ENST00000529110.2:c.548G= ENSP00000435349.2:p.Ser183=
ENST00000529957.6:n.522G=
ENST00000683366.1:c.*196G= ENSP00000507283.1:n.*196G=
ENST00000683887.1:c.512G= ENSP00000506886.1:p.Ser171=
ENST00000684100.1:n.458G=
ENST00000684126.1:n.522G=
ENST00000684688.1:n.1089G=
ENST00000204679.9:c.464G= MANE Select ENSP00000204679.4:p.Ser155=
ENST00000204679.8:c.464G= ENSP00000204679.4:p.Ser155=
ENST00000527076.1:n.1480G=
ENST00000527168.5:n.500G=
ENST00000529110.1:c.531G=
ENST00000529957.5:n.563G=
NM_032520.4:c.464G= NP_115909.1:p.Ser155=
XM_017023782.1:c.512G= XP_016879271.1:p.Ser171=
XM_017023783.1:c.104G= XP_016879272.1:p.Ser35=
NM_032520.5:c.464G= MANE Select NP_115909.1:p.Ser155=