Canonical Allele Identifier: CA7060831
Gene: PROZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113160062G>A , CM000675.2:g.113160062G>A GRCh38
NC_000013.10:g.113814376G>A , CM000675.1:g.113814376G>A GRCh37
NC_000013.9:g.112862377G>A NCBI36
NG_031993.1:g.6409G>A
NG_031993.2:g.6409G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342783.5:c.185G>A ENSP00000344458.4:p.Arg62His
ENST00000375547.7:c.119G>A MANE Select ENSP00000364697.2:p.Arg40His
ENST00000342783.4:c.185G>A ENSP00000344458.4:p.Arg62His
ENST00000375547.6:c.119G>A ENSP00000364697.2:p.Arg40His
NM_001256134.1:c.185G>A NP_001243063.1:p.Arg62His
NM_003891.2:c.119G>A NP_003882.1:p.Arg40His
XM_011537525.1:c.329G>A XP_011535827.1:p.Arg110His
XM_017020812.1:c.320G>A XP_016876301.1:p.Arg107His
XM_017020813.1:c.185G>A XP_016876302.1:p.Arg62His
XR_001749707.1:n.306G>A
XR_001749708.1:n.306G>A
XR_001749709.1:n.306G>A
NM_003891.3:c.119G>A MANE Select NP_003882.1:p.Arg40His
NM_001256134.2:c.185G>A NP_001243063.1:p.Arg62His