Canonical Allele Identifier: CA6434805

Gene: MFAP5

Linked Data

• dbSNP Id: rs201631388
• ExAC: 12:8814670 A / G
• gnomAD v4: 12-8662074-A-G
• MyVariant Identifiers: chr12:g.8814670A>G (hg19) ; chr12:g.8662074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8662074A>G , CM000674.2:g.8662074A>G	GRCh38
NC_000012.11:g.8814670A>G , CM000674.1:g.8814670A>G	GRCh37
NC_000012.10:g.8705937A>G	NCBI36
NG_041814.1:g.5815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.31T>C MANE Select	ENSP00000352455.2:p.Phe11Leu
ENST00000359478.6:c.31T>C	ENSP00000352455.2:p.Phe11Leu
ENST00000396549.6:c.31T>C	ENSP00000379798.2:p.Phe11Leu
ENST00000433590.6:c.31T>C	ENSP00000411997.2:p.Phe11Leu
ENST00000534833.5:n.82T>C
ENST00000535336.5:c.31T>C	ENSP00000438525.1:p.Phe11Leu
ENST00000537009.5:c.31T>C	ENSP00000439289.1:p.Phe11Leu
ENST00000537128.1:n.295T>C
ENST00000538107.5:n.295T>C
ENST00000540087.5:c.31T>C	ENSP00000440496.1:p.Phe11Leu
ENST00000543369.5:c.31T>C	ENSP00000441492.1:p.Phe11Leu
ENST00000544211.5:c.31T>C	ENSP00000443839.1:p.Phe11Leu
ENST00000544889.1:c.31T>C	ENSP00000445799.1:p.Phe11Leu
NM_001297709.1:c.31T>C	NP_001284638.1:p.Phe11Leu
NM_001297710.1:c.31T>C	NP_001284639.1:p.Phe11Leu
NM_001297711.1:c.31T>C	NP_001284640.1:p.Phe11Leu
NM_001297712.1:c.31T>C	NP_001284641.1:p.Phe11Leu
NM_003480.3:c.31T>C	NP_003471.1:p.Phe11Leu
NR_123733.1:n.295T>C
NR_123734.1:n.295T>C
NM_003480.4:c.31T>C MANE Select	NP_003471.1:p.Phe11Leu
NM_001297709.2:c.31T>C	NP_001284638.1:p.Phe11Leu
NM_001297710.2:c.31T>C	NP_001284639.1:p.Phe11Leu
NM_001297711.2:c.31T>C	NP_001284640.1:p.Phe11Leu
NM_001297712.2:c.31T>C	NP_001284641.1:p.Phe11Leu
NR_123733.2:n.233T>C
NR_123734.2:n.233T>C