Canonical Allele Identifier: CA1513372
Community Standard Title: NM_012293.3(PXDN):c.1292-21T>C
Gene: PXDN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1665095A>G , CM000664.2:g.1665095A>G GRCh38
NC_000002.11:g.1668867A>G , CM000664.1:g.1668867A>G GRCh37
NC_000002.10:g.1647874A>G NCBI36
NG_034221.1:g.84453T>C

Transcript Alleles

HGVS Amino-acid Change
NM_012293.3:c.1292-21T>C MANE Select NP_036425.1:n.1292-21T>C
ENST00000252804.9:c.1292-21T>C MANE Select ENSP00000252804.4:n.1292-21T>C
NM_012293.2:c.1292-21T>C NP_036425.1:n.1292-21T>C
ENST00000252804.8:c.1292-21T>C ENSP00000252804.4:n.1292-21T>C
ENST00000425171.2:c.1220-21T>C ENSP00000398363.2:n.1220-21T>C
ENST00000433670.5:c.1279-21T>C
ENST00000467191.5:n.484-21T>C
ENST00000478155.5:n.690-21T>C
XM_005264707.2:c.1220-21T>C XP_005264764.1:n.1220-21T>C
XM_005264707.3:c.1220-21T>C XP_005264764.1:n.1220-21T>C
XM_011510395.1:c.1103-21T>C XP_011508697.1:n.1103-21T>C
XM_011510396.1:c.743-21T>C XP_011508698.1:n.743-21T>C
XM_011510397.1:c.743-21T>C XP_011508699.1:n.743-21T>C