Canonical Allele Identifier: CA478464257

Gene: MFAP5

Linked Data

• gnomAD v4: 12-8648151-G-A
• MyVariant Identifiers: chr12:g.8800747G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648151G>A , CM000674.2:g.8648151G>A	GRCh38
NC_000012.11:g.8800747G>A , CM000674.1:g.8800747G>A	GRCh37
NC_000012.10:g.8692014G>A	NCBI36
NG_041814.1:g.19738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.462C>T MANE Select	ENSP00000352455.2:p.Ser154=
ENST00000359478.6:c.462C>T	ENSP00000352455.2:p.Ser154=
ENST00000396549.6:c.432C>T	ENSP00000379798.2:p.Ser144=
ENST00000433590.6:c.387C>T	ENSP00000411997.2:p.Ser129=
ENST00000535336.5:c.270C>T	ENSP00000438525.1:p.Ser90=
ENST00000535411.5:c.431C>T
ENST00000537009.5:c.*114C>T	ENSP00000439289.1:n.*114C>T
ENST00000538694.5:n.421C>T
ENST00000540087.5:c.432C>T	ENSP00000440496.1:p.Ser144=
ENST00000543369.5:c.396C>T	ENSP00000441492.1:p.Ser132=
ENST00000543467.5:c.180C>T	ENSP00000444531.1:p.Ser60=
ENST00000544211.5:c.*114C>T	ENSP00000443839.1:n.*114C>T
NM_001297709.1:c.432C>T	NP_001284638.1:p.Ser144=
NM_001297710.1:c.396C>T	NP_001284639.1:p.Ser132=
NM_001297711.1:c.387C>T	NP_001284640.1:p.Ser129=
NM_001297712.1:c.270C>T	NP_001284641.1:p.Ser90=
NM_003480.3:c.462C>T	NP_003471.1:p.Ser154=
NR_123733.1:n.795C>T
NR_123734.1:n.765C>T
NM_003480.4:c.462C>T MANE Select	NP_003471.1:p.Ser154=
NM_001297709.2:c.432C>T	NP_001284638.1:p.Ser144=
NM_001297710.2:c.396C>T	NP_001284639.1:p.Ser132=
NM_001297711.2:c.387C>T	NP_001284640.1:p.Ser129=
NM_001297712.2:c.270C>T	NP_001284641.1:p.Ser90=
NR_123733.2:n.733C>T
NR_123734.2:n.703C>T