Canonical Allele Identifier: CA388797675

Gene: PROZ

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113160061C>T , CM000675.2:g.113160061C>T	GRCh38
NC_000013.10:g.113814375C>T , CM000675.1:g.113814375C>T	GRCh37
NC_000013.9:g.112862376C>T	NCBI36
NG_031993.1:g.6408C>T
NG_031993.2:g.6408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342783.5:c.184C>T	ENSP00000344458.4:p.Arg62Cys
ENST00000375547.7:c.118C>T MANE Select	ENSP00000364697.2:p.Arg40Cys
ENST00000342783.4:c.184C>T	ENSP00000344458.4:p.Arg62Cys
ENST00000375547.6:c.118C>T	ENSP00000364697.2:p.Arg40Cys
NM_001256134.1:c.184C>T	NP_001243063.1:p.Arg62Cys
NM_003891.2:c.118C>T	NP_003882.1:p.Arg40Cys
XM_011537525.1:c.328C>T	XP_011535827.1:p.Arg110Cys
XM_017020812.1:c.319C>T	XP_016876301.1:p.Arg107Cys
XM_017020813.1:c.184C>T	XP_016876302.1:p.Arg62Cys
XR_001749707.1:n.305C>T
XR_001749708.1:n.305C>T
XR_001749709.1:n.305C>T
NM_003891.3:c.118C>T MANE Select	NP_003882.1:p.Arg40Cys
NM_001256134.2:c.184C>T	NP_001243063.1:p.Arg62Cys