Canonical Allele Identifier: CA41678821
Gene: PXDN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1744425G>A , CM000664.2:g.1744425G>A GRCh38
NC_000002.11:g.1748197G>A , CM000664.1:g.1748197G>A GRCh37
NC_000002.10:g.1727204G>A NCBI36
NG_034221.1:g.5123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000425171.2:c.31C>T ENSP00000398363.2:p.Arg11Cys
ENST00000252804.9:c.31C>T MANE Select ENSP00000252804.4:p.Arg11Cys
ENST00000252804.8:c.31C>T ENSP00000252804.4:p.Arg11Cys
ENST00000425171.1:c.31C>T ENSP00000398363.1:p.Arg11Cys
ENST00000433670.5:c.18C>T
ENST00000485177.1:n.49+379C>T
NM_012293.2:c.31C>T NP_036425.1:p.Arg11Cys
XM_005264707.2:c.31C>T XP_005264764.1:p.Arg11Cys
XM_011510396.1:c.-350+379C>T XP_011508698.1:n.-350+379C>T
XM_005264707.3:c.31C>T XP_005264764.1:p.Arg11Cys
NM_012293.3:c.31C>T MANE Select NP_036425.1:p.Arg11Cys