Canonical Allele Identifier: CA7060850

Gene: PROZ

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113160151G>T , CM000675.2:g.113160151G>T	GRCh38
NC_000013.10:g.113814465G>T , CM000675.1:g.113814465G>T	GRCh37
NC_000013.9:g.112862466G>T	NCBI36
NG_031993.1:g.6498G>T
NG_031993.2:g.6498G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003891.3:c.208G>T MANE Select	NP_003882.1:p.Glu70Ter
ENST00000375547.7:c.208G>T MANE Select	ENSP00000364697.2:p.Glu70Ter
NM_001256134.1:c.274G>T	NP_001243063.1:p.Glu92Ter
NM_001256134.2:c.274G>T	NP_001243063.1:p.Glu92Ter
NM_003891.2:c.208G>T	NP_003882.1:p.Glu70Ter
ENST00000342783.4:c.274G>T	ENSP00000344458.4:p.Glu92Ter
ENST00000342783.5:c.274G>T	ENSP00000344458.4:p.Glu92Ter
ENST00000375547.6:c.208G>T	ENSP00000364697.2:p.Glu70Ter
XM_011537525.1:c.418G>T	XP_011535827.1:p.Glu140Ter
XM_017020812.1:c.409G>T	XP_016876301.1:p.Glu137Ter
XM_017020813.1:c.274G>T	XP_016876302.1:p.Glu92Ter
XR_001749707.1:n.395G>T
XR_001749708.1:n.395G>T
XR_001749709.1:n.395G>T