Canonical Allele Identifier: CA384038701

Gene: MFAP5

Linked Data

• ClinVar Variation Id: 2055099
• ClinVar RCV Id: RCV002933160
• MyVariant Identifiers: chr12:g.8800746T>C (hg19) ; chr12:g.8648150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648150T>C , CM000674.2:g.8648150T>C	GRCh38
NC_000012.11:g.8800746T>C , CM000674.1:g.8800746T>C	GRCh37
NC_000012.10:g.8692013T>C	NCBI36
NG_041814.1:g.19739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.463A>G MANE Select	ENSP00000352455.2:p.Asn155Asp
ENST00000359478.6:c.463A>G	ENSP00000352455.2:p.Asn155Asp
ENST00000396549.6:c.433A>G	ENSP00000379798.2:p.Asn145Asp
ENST00000433590.6:c.388A>G	ENSP00000411997.2:p.Asn130Asp
ENST00000535336.5:c.271A>G	ENSP00000438525.1:p.Asn91Asp
ENST00000535411.5:c.432A>G
ENST00000537009.5:c.*115A>G	ENSP00000439289.1:n.*115A>G
ENST00000538694.5:n.422A>G
ENST00000540087.5:c.433A>G	ENSP00000440496.1:p.Asn145Asp
ENST00000543369.5:c.397A>G	ENSP00000441492.1:p.Asn133Asp
ENST00000543467.5:c.181A>G	ENSP00000444531.1:p.Asn61Asp
ENST00000544211.5:c.*115A>G	ENSP00000443839.1:n.*115A>G
NM_001297709.1:c.433A>G	NP_001284638.1:p.Asn145Asp
NM_001297710.1:c.397A>G	NP_001284639.1:p.Asn133Asp
NM_001297711.1:c.388A>G	NP_001284640.1:p.Asn130Asp
NM_001297712.1:c.271A>G	NP_001284641.1:p.Asn91Asp
NM_003480.3:c.463A>G	NP_003471.1:p.Asn155Asp
NR_123733.1:n.796A>G
NR_123734.1:n.766A>G
NM_003480.4:c.463A>G MANE Select	NP_003471.1:p.Asn155Asp
NM_001297709.2:c.433A>G	NP_001284638.1:p.Asn145Asp
NM_001297710.2:c.397A>G	NP_001284639.1:p.Asn133Asp
NM_001297711.2:c.388A>G	NP_001284640.1:p.Asn130Asp
NM_001297712.2:c.271A>G	NP_001284641.1:p.Asn91Asp
NR_123733.2:n.734A>G
NR_123734.2:n.704A>G