Canonical Allele Identifier: CA1512580
Gene: PXDN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1643399T>C , CM000664.2:g.1643399T>C GRCh38
NC_000002.11:g.1647171T>C , CM000664.1:g.1647171T>C GRCh37
NC_000002.10:g.1626178T>C NCBI36
NG_034221.1:g.106149A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252804.9:c.3921A>G MANE Select ENSP00000252804.4:p.Val1307=
ENST00000252804.8:c.3921A>G ENSP00000252804.4:p.Val1307=
ENST00000453308.1:c.73A>G
ENST00000477093.1:n.563A>G
ENST00000478155.5:n.3009A>G
NM_012293.2:c.3921A>G NP_036425.1:p.Val1307=
XM_005264707.2:c.3849A>G XP_005264764.1:p.Val1283=
XM_011510395.1:c.3732A>G XP_011508697.1:p.Val1244=
XM_011510396.1:c.3372A>G XP_011508698.1:p.Val1124=
XM_011510397.1:c.3372A>G XP_011508699.1:p.Val1124=
XM_005264707.3:c.3849A>G XP_005264764.1:p.Val1283=
NM_012293.3:c.3921A>G MANE Select NP_036425.1:p.Val1307=