Canonical Allele Identifier: CA384038694

Gene: MFAP5

Linked Data

• gnomAD v4: 12-8648147-A-T
• MyVariant Identifiers: chr12:g.8800743A>T (hg19) ; chr12:g.8648147A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648147A>T , CM000674.2:g.8648147A>T	GRCh38
NC_000012.11:g.8800743A>T , CM000674.1:g.8800743A>T	GRCh37
NC_000012.10:g.8692010A>T	NCBI36
NG_041814.1:g.19742T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.466T>A MANE Select	ENSP00000352455.2:p.Tyr156Asn
ENST00000359478.6:c.466T>A	ENSP00000352455.2:p.Tyr156Asn
ENST00000396549.6:c.436T>A	ENSP00000379798.2:p.Tyr146Asn
ENST00000433590.6:c.391T>A	ENSP00000411997.2:p.Tyr131Asn
ENST00000535336.5:c.274T>A	ENSP00000438525.1:p.Tyr92Asn
ENST00000535411.5:c.435T>A
ENST00000537009.5:c.*118T>A	ENSP00000439289.1:n.*118T>A
ENST00000538694.5:n.425T>A
ENST00000540087.5:c.436T>A	ENSP00000440496.1:p.Tyr146Asn
ENST00000543369.5:c.400T>A	ENSP00000441492.1:p.Tyr134Asn
ENST00000543467.5:c.184T>A	ENSP00000444531.1:p.Tyr62Asn
ENST00000544211.5:c.*118T>A	ENSP00000443839.1:n.*118T>A
NM_001297709.1:c.436T>A	NP_001284638.1:p.Tyr146Asn
NM_001297710.1:c.400T>A	NP_001284639.1:p.Tyr134Asn
NM_001297711.1:c.391T>A	NP_001284640.1:p.Tyr131Asn
NM_001297712.1:c.274T>A	NP_001284641.1:p.Tyr92Asn
NM_003480.3:c.466T>A	NP_003471.1:p.Tyr156Asn
NR_123733.1:n.799T>A
NR_123734.1:n.769T>A
NM_003480.4:c.466T>A MANE Select	NP_003471.1:p.Tyr156Asn
NM_001297709.2:c.436T>A	NP_001284638.1:p.Tyr146Asn
NM_001297710.2:c.400T>A	NP_001284639.1:p.Tyr134Asn
NM_001297711.2:c.391T>A	NP_001284640.1:p.Tyr131Asn
NM_001297712.2:c.274T>A	NP_001284641.1:p.Tyr92Asn
NR_123733.2:n.737T>A
NR_123734.2:n.707T>A