Canonical Allele Identifier: CA7061012

Gene: PROZ PCID2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113165089G>A , CM000675.2:g.113165089G>A	GRCh38
NC_000013.10:g.113819403G>A , CM000675.1:g.113819403G>A	GRCh37
NC_000013.9:g.112867404G>A	NCBI36
NG_031993.1:g.11436G>A
NG_031993.2:g.11436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342783.5:c.608G>A (PROZ)	ENSP00000344458.4:p.Arg203His
ENST00000375547.7:c.542G>A (PROZ) MANE Select	ENSP00000364697.2:p.Arg181His
ENST00000342783.4:c.608G>A (PROZ)	ENSP00000344458.4:p.Arg203His
ENST00000375547.6:c.542G>A (PROZ)	ENSP00000364697.2:p.Arg181His
ENST00000493630.1:n.163G>A (PROZ)
NM_001256134.1:c.608G>A (PROZ)	NP_001243063.1:p.Arg203His
NM_003891.2:c.542G>A (PROZ)	NP_003882.1:p.Arg181His
XM_011537525.1:c.752G>A (PROZ)	XP_011535827.1:p.Arg251His
XM_017020812.1:c.743G>A (PROZ)	XP_016876301.1:p.Arg248His
XM_017020813.1:c.608G>A (PROZ)	XP_016876302.1:p.Arg203His
XR_001749631.1:n.3035C>T (PCID2)
XR_001749707.1:n.729G>A (PROZ)
XR_001749708.1:n.729G>A (PROZ)
XR_001749709.1:n.729G>A (PROZ)
NM_003891.3:c.542G>A (PROZ) MANE Select	NP_003882.1:p.Arg181His
NM_001256134.2:c.608G>A (PROZ)	NP_001243063.1:p.Arg203His