Canonical Allele Identifier: CA10341753

Gene: PUDP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.7077354G>A , CM000685.2:g.7077354G>A	GRCh38
NC_000023.10:g.6995395G>A , CM000685.1:g.6995395G>A	GRCh37
NC_000023.9:g.7005395G>A	NCBI36
NG_021256.1:g.75837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381077.10:c.376C>T MANE Select	ENSP00000370467.6:p.Arg126Cys
ENST00000486446.3:c.376C>T	ENSP00000430995.2:p.Arg126Cys
ENST00000655425.1:c.70C>T	ENSP00000499460.1:p.Arg24Cys
ENST00000381077.9:c.376C>T	ENSP00000370467.5:p.Arg126Cys
ENST00000412827.6:c.247C>T	ENSP00000406260.2:p.Arg83Cys
ENST00000424830.6:c.445C>T	ENSP00000396452.2:p.Arg149Cys
ENST00000486446.2:c.376C>T	ENSP00000430995.1:p.Arg126Cys
ENST00000540122.5:c.376C>T	ENSP00000441208.1:p.Arg126Cys
NM_001135565.1:c.445C>T	NP_001129037.1:p.Arg149Cys
NM_001178135.1:c.376C>T	NP_001171606.1:p.Arg126Cys
NM_001178136.1:c.247C>T	NP_001171607.1:p.Arg83Cys
NM_012080.4:c.376C>T	NP_036212.3:p.Arg126Cys
XR_001755734.1:n.415C>T
NM_001135565.2:c.445C>T	NP_001129037.1:p.Arg149Cys
NM_001178135.2:c.376C>T	NP_001171606.1:p.Arg126Cys
NM_001178136.2:c.247C>T	NP_001171607.1:p.Arg83Cys
NM_012080.5:c.376C>T MANE Select	NP_036212.3:p.Arg126Cys