Canonical Allele Identifier: CA2201614902
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362229C= , CM000678.2:g.1362229C= GRCh38
NC_000016.9:g.1412230C= , CM000678.1:g.1412230C= GRCh37
NC_000016.8:g.1352231C= NCBI36
NG_016985.1:g.15331C=
NG_033129.1:g.57476G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.534C=
ENST00000529110.2:c.519C= ENSP00000435349.2:p.Ser173=
ENST00000529957.6:n.493C=
ENST00000683366.1:c.*167C= ENSP00000507283.1:n.*167C=
ENST00000683887.1:c.483C= ENSP00000506886.1:p.Ser161=
ENST00000684100.1:n.429C=
ENST00000684126.1:n.493C=
ENST00000684688.1:n.1060C=
ENST00000204679.9:c.435C= MANE Select ENSP00000204679.4:p.Ser145=
ENST00000204679.8:c.435C= ENSP00000204679.4:p.Ser145=
ENST00000527076.1:n.1451C=
ENST00000527168.5:n.471C=
ENST00000529110.1:c.502C=
ENST00000529957.5:n.534C=
NM_032520.4:c.435C= NP_115909.1:p.Ser145=
XM_017023782.1:c.483C= XP_016879271.1:p.Ser161=
XM_017023783.1:c.75C= XP_016879272.1:p.Ser25=
NM_032520.5:c.435C= MANE Select NP_115909.1:p.Ser145=