Canonical Allele Identifier: CA1512790

Gene: PXDN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1648582G>A , CM000664.2:g.1648582G>A	GRCh38
NC_000002.11:g.1652354G>A , CM000664.1:g.1652354G>A	GRCh37
NC_000002.10:g.1631361G>A	NCBI36
NG_034221.1:g.100966C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012293.3:c.3198C>T MANE Select	NP_036425.1:p.Ala1066=
ENST00000252804.9:c.3198C>T MANE Select	ENSP00000252804.4:p.Ala1066=
NM_012293.2:c.3198C>T	NP_036425.1:p.Ala1066=
ENST00000252804.8:c.3198C>T	ENSP00000252804.4:p.Ala1066=
ENST00000478155.5:n.2697-3830C>T
XM_005264707.2:c.3126C>T	XP_005264764.1:p.Ala1042=
XM_005264707.3:c.3126C>T	XP_005264764.1:p.Ala1042=
XM_011510395.1:c.3009C>T	XP_011508697.1:p.Ala1003=
XM_011510396.1:c.2649C>T	XP_011508698.1:p.Ala883=
XM_011510397.1:c.2649C>T	XP_011508699.1:p.Ala883=