Canonical Allele Identifier: CA11143776
Community Standard Title: NM_012293.3(PXDN):c.4320+120T>C
Gene: PXDN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1635288A>G , CM000664.2:g.1635288A>G GRCh38
NC_000002.11:g.1639060A>G , CM000664.1:g.1639060A>G GRCh37
NC_000002.10:g.1618067A>G NCBI36
NG_034221.1:g.114260T>C

Transcript Alleles

HGVS Amino-acid Change
NM_012293.3:c.4320+120T>C MANE Select NP_036425.1:n.4320+120T>C
ENST00000252804.9:c.4320+120T>C MANE Select ENSP00000252804.4:n.4320+120T>C
NM_012293.2:c.4320+120T>C NP_036425.1:n.4320+120T>C
ENST00000252804.8:c.4320+120T>C ENSP00000252804.4:n.4320+120T>C
ENST00000453308.1:c.339+120T>C
ENST00000478155.5:n.3408+120T>C
ENST00000493654.1:n.1657+120T>C
XM_005264707.2:c.4248+120T>C XP_005264764.1:n.4248+120T>C
XM_005264707.3:c.4248+120T>C XP_005264764.1:n.4248+120T>C
XM_011510395.1:c.4131+120T>C XP_011508697.1:n.4131+120T>C
XM_011510396.1:c.3771+120T>C XP_011508698.1:n.3771+120T>C
XM_011510397.1:c.3771+120T>C XP_011508699.1:n.3771+120T>C