Canonical Allele Identifier: CA2978647228

Gene: MFAP5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648052T>C , CM000674.2:g.8648052T>C	GRCh38
NC_000012.11:g.8800648T>C , CM000674.1:g.8800648T>C	GRCh37
NC_000012.10:g.8691915T>C	NCBI36
NG_041814.1:g.19837A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.*39A>G MANE Select	ENSP00000352455.2:n.*39A>G
ENST00000359478.6:c.*39A>G	ENSP00000352455.2:n.*39A>G
ENST00000396549.6:c.*39A>G	ENSP00000379798.2:n.*39A>G
ENST00000433590.6:c.*39A>G	ENSP00000411997.2:n.*39A>G
ENST00000535336.5:c.*39A>G	ENSP00000438525.1:n.*39A>G
ENST00000535411.5:c.520+10A>G
ENST00000543369.5:c.*39A>G	ENSP00000441492.1:n.*39A>G
ENST00000543467.5:c.269+10A>G	ENSP00000444531.1:n.269+10A>G
ENST00000544211.5:c.*213A>G	ENSP00000443839.1:n.*213A>G
NM_001297709.1:c.*39A>G	NP_001284638.1:n.*39A>G
NM_001297710.1:c.*39A>G	NP_001284639.1:n.*39A>G
NM_001297711.1:c.*39A>G	NP_001284640.1:n.*39A>G
NM_001297712.1:c.*39A>G	NP_001284641.1:n.*39A>G
NM_003480.3:c.*39A>G	NP_003471.1:n.*39A>G
NR_123733.1:n.894A>G
NR_123734.1:n.864A>G
NM_003480.4:c.*39A>G MANE Select	NP_003471.1:n.*39A>G
NM_001297709.2:c.*39A>G	NP_001284638.1:n.*39A>G
NM_001297710.2:c.*39A>G	NP_001284639.1:n.*39A>G
NM_001297711.2:c.*39A>G	NP_001284640.1:n.*39A>G
NM_001297712.2:c.*39A>G	NP_001284641.1:n.*39A>G
NR_123733.2:n.832A>G
NR_123734.2:n.802A>G