Canonical Allele Identifier: CA10341789
Gene: PUDP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.7105631G>A , CM000685.2:g.7105631G>A GRCh38
NC_000023.10:g.7023672G>A , CM000685.1:g.7023672G>A GRCh37
NC_000023.9:g.7033672G>A NCBI36
NG_021256.1:g.47560C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381077.10:c.269C>T MANE Select ENSP00000370467.6:p.Ala90Val
ENST00000486446.3:c.269C>T ENSP00000430995.2:p.Ala90Val
ENST00000381077.9:c.269C>T ENSP00000370467.5:p.Ala90Val
ENST00000412827.6:c.151+118C>T ENSP00000406260.2:n.151+118C>T
ENST00000424830.6:c.338C>T ENSP00000396452.2:p.Ala113Val
ENST00000486446.2:c.269C>T ENSP00000430995.1:p.Ala90Val
ENST00000498474.2:n.308C>T
ENST00000540122.5:c.269C>T ENSP00000441208.1:p.Ala90Val
NM_001135565.1:c.338C>T NP_001129037.1:p.Ala113Val
NM_001178135.1:c.269C>T NP_001171606.1:p.Ala90Val
NM_001178136.1:c.151+118C>T NP_001171607.1:n.151+118C>T
NM_012080.4:c.269C>T NP_036212.3:p.Ala90Val
XR_001755734.1:n.308C>T
NM_001135565.2:c.338C>T NP_001129037.1:p.Ala113Val
NM_001178135.2:c.269C>T NP_001171606.1:p.Ala90Val
NM_001178136.2:c.151+118C>T NP_001171607.1:n.151+118C>T
NM_012080.5:c.269C>T MANE Select NP_036212.3:p.Ala90Val