Canonical Allele Identifier: CA1512492

Gene: PXDN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1638857G>T , CM000664.2:g.1638857G>T	GRCh38
NC_000002.11:g.1642629G>T , CM000664.1:g.1642629G>T	GRCh37
NC_000002.10:g.1621636G>T	NCBI36
NG_034221.1:g.110691C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012293.3:c.4195C>A MANE Select	NP_036425.1:p.Leu1399Ile
ENST00000252804.9:c.4195C>A MANE Select	ENSP00000252804.4:p.Leu1399Ile
NM_012293.2:c.4195C>A	NP_036425.1:p.Leu1399Ile
ENST00000252804.8:c.4195C>A	ENSP00000252804.4:p.Leu1399Ile
ENST00000453308.1:c.225+445C>A
ENST00000478155.5:n.3283C>A
XM_005264707.2:c.4123C>A	XP_005264764.1:p.Leu1375Ile
XM_005264707.3:c.4123C>A	XP_005264764.1:p.Leu1375Ile
XM_011510395.1:c.4006C>A	XP_011508697.1:p.Leu1336Ile
XM_011510396.1:c.3646C>A	XP_011508698.1:p.Leu1216Ile
XM_011510397.1:c.3646C>A	XP_011508699.1:p.Leu1216Ile