Canonical Allele Identifier: CA345698984

Gene: PXDN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1638872T>C , CM000664.2:g.1638872T>C	GRCh38
NC_000002.11:g.1642644T>C , CM000664.1:g.1642644T>C	GRCh37
NC_000002.10:g.1621651T>C	NCBI36
NG_034221.1:g.110676A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012293.3:c.4180A>G MANE Select	NP_036425.1:p.Lys1394Glu
ENST00000252804.9:c.4180A>G MANE Select	ENSP00000252804.4:p.Lys1394Glu
NM_012293.2:c.4180A>G	NP_036425.1:p.Lys1394Glu
ENST00000252804.8:c.4180A>G	ENSP00000252804.4:p.Lys1394Glu
ENST00000453308.1:c.225+430A>G
ENST00000478155.5:n.3268A>G
XM_005264707.2:c.4108A>G	XP_005264764.1:p.Lys1370Glu
XM_005264707.3:c.4108A>G	XP_005264764.1:p.Lys1370Glu
XM_011510395.1:c.3991A>G	XP_011508697.1:p.Lys1331Glu
XM_011510396.1:c.3631A>G	XP_011508698.1:p.Lys1211Glu
XM_011510397.1:c.3631A>G	XP_011508699.1:p.Lys1211Glu