Canonical Allele Identifier: CA384038697

Gene: MFAP5

Linked Data

• MyVariant Identifiers: chr12:g.8800744A>T (hg19) ; chr12:g.8648148A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648148A>T , CM000674.2:g.8648148A>T	GRCh38
NC_000012.11:g.8800744A>T , CM000674.1:g.8800744A>T	GRCh37
NC_000012.10:g.8692011A>T	NCBI36
NG_041814.1:g.19741T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.465T>A MANE Select	ENSP00000352455.2:p.Asn155Lys
ENST00000359478.6:c.465T>A	ENSP00000352455.2:p.Asn155Lys
ENST00000396549.6:c.435T>A	ENSP00000379798.2:p.Asn145Lys
ENST00000433590.6:c.390T>A	ENSP00000411997.2:p.Asn130Lys
ENST00000535336.5:c.273T>A	ENSP00000438525.1:p.Asn91Lys
ENST00000535411.5:c.434T>A
ENST00000537009.5:c.*117T>A	ENSP00000439289.1:n.*117T>A
ENST00000538694.5:n.424T>A
ENST00000540087.5:c.435T>A	ENSP00000440496.1:p.Asn145Lys
ENST00000543369.5:c.399T>A	ENSP00000441492.1:p.Asn133Lys
ENST00000543467.5:c.183T>A	ENSP00000444531.1:p.Asn61Lys
ENST00000544211.5:c.*117T>A	ENSP00000443839.1:n.*117T>A
NM_001297709.1:c.435T>A	NP_001284638.1:p.Asn145Lys
NM_001297710.1:c.399T>A	NP_001284639.1:p.Asn133Lys
NM_001297711.1:c.390T>A	NP_001284640.1:p.Asn130Lys
NM_001297712.1:c.273T>A	NP_001284641.1:p.Asn91Lys
NM_003480.3:c.465T>A	NP_003471.1:p.Asn155Lys
NR_123733.1:n.798T>A
NR_123734.1:n.768T>A
NM_003480.4:c.465T>A MANE Select	NP_003471.1:p.Asn155Lys
NM_001297709.2:c.435T>A	NP_001284638.1:p.Asn145Lys
NM_001297710.2:c.399T>A	NP_001284639.1:p.Asn133Lys
NM_001297711.2:c.390T>A	NP_001284640.1:p.Asn130Lys
NM_001297712.2:c.273T>A	NP_001284641.1:p.Asn91Lys
NR_123733.2:n.736T>A
NR_123734.2:n.706T>A