Canonical Allele Identifier: CA384039673

Gene: MFAP5

Linked Data

• MyVariant Identifiers: chr12:g.8814649T>G (hg19) ; chr12:g.8662053T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8662053T>G , CM000674.2:g.8662053T>G	GRCh38
NC_000012.11:g.8814649T>G , CM000674.1:g.8814649T>G	GRCh37
NC_000012.10:g.8705916T>G	NCBI36
NG_041814.1:g.5836A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.52A>C MANE Select	ENSP00000352455.2:p.Thr18Pro
ENST00000359478.6:c.52A>C	ENSP00000352455.2:p.Thr18Pro
ENST00000396549.6:c.52A>C	ENSP00000379798.2:p.Thr18Pro
ENST00000433590.6:c.52A>C	ENSP00000411997.2:p.Thr18Pro
ENST00000534833.5:n.103A>C
ENST00000535336.5:c.52A>C	ENSP00000438525.1:p.Thr18Pro
ENST00000535411.5:c.21A>C
ENST00000537009.5:c.52A>C	ENSP00000439289.1:p.Thr18Pro
ENST00000537128.1:n.316A>C
ENST00000538107.5:n.316A>C
ENST00000540087.5:c.52A>C	ENSP00000440496.1:p.Thr18Pro
ENST00000543369.5:c.52A>C	ENSP00000441492.1:p.Thr18Pro
ENST00000544211.5:c.52A>C	ENSP00000443839.1:p.Thr18Pro
ENST00000544889.1:c.52A>C	ENSP00000445799.1:p.Thr18Pro
NM_001297709.1:c.52A>C	NP_001284638.1:p.Thr18Pro
NM_001297710.1:c.52A>C	NP_001284639.1:p.Thr18Pro
NM_001297711.1:c.52A>C	NP_001284640.1:p.Thr18Pro
NM_001297712.1:c.52A>C	NP_001284641.1:p.Thr18Pro
NM_003480.3:c.52A>C	NP_003471.1:p.Thr18Pro
NR_123733.1:n.316A>C
NR_123734.1:n.316A>C
NM_003480.4:c.52A>C MANE Select	NP_003471.1:p.Thr18Pro
NM_001297709.2:c.52A>C	NP_001284638.1:p.Thr18Pro
NM_001297710.2:c.52A>C	NP_001284639.1:p.Thr18Pro
NM_001297711.2:c.52A>C	NP_001284640.1:p.Thr18Pro
NM_001297712.2:c.52A>C	NP_001284641.1:p.Thr18Pro
NR_123733.2:n.254A>C
NR_123734.2:n.254A>C