Canonical Allele Identifier: CA41390654
Community Standard Title: NM_012293.3(PXDN):c.4073+90G>A
Gene: PXDN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1639212C>T , CM000664.2:g.1639212C>T GRCh38
NC_000002.11:g.1642984C>T , CM000664.1:g.1642984C>T GRCh37
NC_000002.10:g.1621991C>T NCBI36
NG_034221.1:g.110336G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012293.3:c.4073+90G>A MANE Select NP_036425.1:n.4073+90G>A
ENST00000252804.9:c.4073+90G>A MANE Select ENSP00000252804.4:n.4073+90G>A
NM_012293.2:c.4073+90G>A NP_036425.1:n.4073+90G>A
ENST00000252804.8:c.4073+90G>A ENSP00000252804.4:n.4073+90G>A
ENST00000453308.1:c.225+90G>A
ENST00000478155.5:n.3161+90G>A
XM_005264707.2:c.4001+90G>A XP_005264764.1:n.4001+90G>A
XM_005264707.3:c.4001+90G>A XP_005264764.1:n.4001+90G>A
XM_011510395.1:c.3884+90G>A XP_011508697.1:n.3884+90G>A
XM_011510396.1:c.3524+90G>A XP_011508698.1:n.3524+90G>A
XM_011510397.1:c.3524+90G>A XP_011508699.1:n.3524+90G>A