Canonical Allele Identifier: CA478464201

Gene: MFAP5

Linked Data

• MyVariant Identifiers: chr12:g.8800738G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648142G>A , CM000674.2:g.8648142G>A	GRCh38
NC_000012.11:g.8800738G>A , CM000674.1:g.8800738G>A	GRCh37
NC_000012.10:g.8692005G>A	NCBI36
NG_041814.1:g.19747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.471C>T MANE Select	ENSP00000352455.2:p.Phe157=
ENST00000359478.6:c.471C>T	ENSP00000352455.2:p.Phe157=
ENST00000396549.6:c.441C>T	ENSP00000379798.2:p.Phe147=
ENST00000433590.6:c.396C>T	ENSP00000411997.2:p.Phe132=
ENST00000535336.5:c.279C>T	ENSP00000438525.1:p.Phe93=
ENST00000535411.5:c.440C>T
ENST00000537009.5:c.*123C>T	ENSP00000439289.1:n.*123C>T
ENST00000538694.5:n.430C>T
ENST00000540087.5:c.441C>T	ENSP00000440496.1:p.Phe147=
ENST00000543369.5:c.405C>T	ENSP00000441492.1:p.Phe135=
ENST00000543467.5:c.189C>T	ENSP00000444531.1:p.Phe63=
ENST00000544211.5:c.*123C>T	ENSP00000443839.1:n.*123C>T
NM_001297709.1:c.441C>T	NP_001284638.1:p.Phe147=
NM_001297710.1:c.405C>T	NP_001284639.1:p.Phe135=
NM_001297711.1:c.396C>T	NP_001284640.1:p.Phe132=
NM_001297712.1:c.279C>T	NP_001284641.1:p.Phe93=
NM_003480.3:c.471C>T	NP_003471.1:p.Phe157=
NR_123733.1:n.804C>T
NR_123734.1:n.774C>T
NM_003480.4:c.471C>T MANE Select	NP_003471.1:p.Phe157=
NM_001297709.2:c.441C>T	NP_001284638.1:p.Phe147=
NM_001297710.2:c.405C>T	NP_001284639.1:p.Phe135=
NM_001297711.2:c.396C>T	NP_001284640.1:p.Phe132=
NM_001297712.2:c.279C>T	NP_001284641.1:p.Phe93=
NR_123733.2:n.742C>T
NR_123734.2:n.712C>T