Canonical Allele Identifier: CA2201614896
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362228G= , CM000678.2:g.1362228G= GRCh38
NC_000016.9:g.1412229G= , CM000678.1:g.1412229G= GRCh37
NC_000016.8:g.1352230G= NCBI36
NG_016985.1:g.15330G=
NG_033129.1:g.57477C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.533G=
ENST00000529110.2:c.518G= ENSP00000435349.2:p.Ser173=
ENST00000529957.6:n.492G=
ENST00000683366.1:c.*166G= ENSP00000507283.1:n.*166G=
ENST00000683887.1:c.482G= ENSP00000506886.1:p.Ser161=
ENST00000684100.1:n.428G=
ENST00000684126.1:n.492G=
ENST00000684688.1:n.1059G=
ENST00000204679.9:c.434G= MANE Select ENSP00000204679.4:p.Ser145=
ENST00000204679.8:c.434G= ENSP00000204679.4:p.Ser145=
ENST00000527076.1:n.1450G=
ENST00000527168.5:n.470G=
ENST00000529110.1:c.501G=
ENST00000529957.5:n.533G=
NM_032520.4:c.434G= NP_115909.1:p.Ser145=
XM_017023782.1:c.482G= XP_016879271.1:p.Ser161=
XM_017023783.1:c.74G= XP_016879272.1:p.Ser25=
NM_032520.5:c.434G= MANE Select NP_115909.1:p.Ser145=