Canonical Allele Identifier: CA1512610

Gene: PXDN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1643488C>T , CM000664.2:g.1643488C>T	GRCh38
NC_000002.11:g.1647260C>T , CM000664.1:g.1647260C>T	GRCh37
NC_000002.10:g.1626267C>T	NCBI36
NG_034221.1:g.106060G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012293.3:c.3832G>A MANE Select	NP_036425.1:p.Ala1278Thr
ENST00000252804.9:c.3832G>A MANE Select	ENSP00000252804.4:p.Ala1278Thr
NM_012293.2:c.3832G>A	NP_036425.1:p.Ala1278Thr
ENST00000252804.8:c.3832G>A	ENSP00000252804.4:p.Ala1278Thr
ENST00000477093.1:n.474G>A
ENST00000478155.5:n.2920G>A
XM_005264707.2:c.3760G>A	XP_005264764.1:p.Ala1254Thr
XM_005264707.3:c.3760G>A	XP_005264764.1:p.Ala1254Thr
XM_011510395.1:c.3643G>A	XP_011508697.1:p.Ala1215Thr
XM_011510396.1:c.3283G>A	XP_011508698.1:p.Ala1095Thr
XM_011510397.1:c.3283G>A	XP_011508699.1:p.Ala1095Thr