Canonical Allele Identifier: CA6434565
Gene: MFAP5 HGNC NCBI

Linked Data

dbSNP Id: rs779463853
gnomAD v2: 12-8800752-G-A
gnomAD v3: 12-8648156-G-A
gnomAD v4: 12-8648156-G-A
COSMIC: COSM944183

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8648156G>A , CM000674.2:g.8648156G>A GRCh38
NC_000012.11:g.8800752G>A , CM000674.1:g.8800752G>A GRCh37
NC_000012.10:g.8692019G>A NCBI36
NG_041814.1:g.19733C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359478.7:c.457C>T MANE Select ENSP00000352455.2:p.Arg153Cys
ENST00000359478.6:c.457C>T ENSP00000352455.2:p.Arg153Cys
ENST00000396549.6:c.427C>T ENSP00000379798.2:p.Arg143Cys
ENST00000433590.6:c.382C>T ENSP00000411997.2:p.Arg128Cys
ENST00000535336.5:c.265C>T ENSP00000438525.1:p.Arg89Cys
ENST00000535411.5:c.426C>T
ENST00000537009.5:c.*109C>T ENSP00000439289.1:n.*109C>T
ENST00000538694.5:n.416C>T
ENST00000540087.5:c.427C>T ENSP00000440496.1:p.Arg143Cys
ENST00000543369.5:c.391C>T ENSP00000441492.1:p.Arg131Cys
ENST00000543467.5:c.175C>T ENSP00000444531.1:p.Arg59Cys
ENST00000544211.5:c.*109C>T ENSP00000443839.1:n.*109C>T
NM_001297709.1:c.427C>T NP_001284638.1:p.Arg143Cys
NM_001297710.1:c.391C>T NP_001284639.1:p.Arg131Cys
NM_001297711.1:c.382C>T NP_001284640.1:p.Arg128Cys
NM_001297712.1:c.265C>T NP_001284641.1:p.Arg89Cys
NM_003480.3:c.457C>T NP_003471.1:p.Arg153Cys
NR_123733.1:n.790C>T
NR_123734.1:n.760C>T
NM_003480.4:c.457C>T MANE Select NP_003471.1:p.Arg153Cys
NM_001297709.2:c.427C>T NP_001284638.1:p.Arg143Cys
NM_001297710.2:c.391C>T NP_001284639.1:p.Arg131Cys
NM_001297711.2:c.382C>T NP_001284640.1:p.Arg128Cys
NM_001297712.2:c.265C>T NP_001284641.1:p.Arg89Cys
NR_123733.2:n.728C>T
NR_123734.2:n.698C>T