Canonical Allele Identifier: CA7060907
Community Standard Title: NM_003891.3(PROZ):c.310G>A (p.Asp104Asn)
Gene: PROZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113163059G>A , CM000675.2:g.113163059G>A GRCh38
NC_000013.10:g.113817373G>A , CM000675.1:g.113817373G>A GRCh37
NC_000013.9:g.112865374G>A NCBI36
NG_031993.1:g.9406G>A
NG_031993.2:g.9406G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003891.3:c.310G>A MANE Select NP_003882.1:p.Asp104Asn
ENST00000375547.7:c.310G>A MANE Select ENSP00000364697.2:p.Asp104Asn
NM_001256134.1:c.376G>A NP_001243063.1:p.Asp126Asn
NM_001256134.2:c.376G>A NP_001243063.1:p.Asp126Asn
NM_003891.2:c.310G>A NP_003882.1:p.Asp104Asn
ENST00000342783.4:c.376G>A ENSP00000344458.4:p.Asp126Asn
ENST00000342783.5:c.376G>A ENSP00000344458.4:p.Asp126Asn
ENST00000375547.6:c.310G>A ENSP00000364697.2:p.Asp104Asn
XM_011537525.1:c.520G>A XP_011535827.1:p.Asp174Asn
XM_017020812.1:c.511G>A XP_016876301.1:p.Asp171Asn
XM_017020813.1:c.376G>A XP_016876302.1:p.Asp126Asn
XR_001749707.1:n.497G>A
XR_001749708.1:n.497G>A
XR_001749709.1:n.497G>A