Canonical Allele Identifier: CA384038705

Gene: MFAP5

Linked Data

• dbSNP Id: rs1429113580
• gnomAD v4: 12-8648152-G-T
• MyVariant Identifiers: chr12:g.8800748G>T (hg19) ; chr12:g.8648152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648152G>T , CM000674.2:g.8648152G>T	GRCh38
NC_000012.11:g.8800748G>T , CM000674.1:g.8800748G>T	GRCh37
NC_000012.10:g.8692015G>T	NCBI36
NG_041814.1:g.19737C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.461C>A MANE Select	ENSP00000352455.2:p.Ser154Tyr
ENST00000359478.6:c.461C>A	ENSP00000352455.2:p.Ser154Tyr
ENST00000396549.6:c.431C>A	ENSP00000379798.2:p.Ser144Tyr
ENST00000433590.6:c.386C>A	ENSP00000411997.2:p.Ser129Tyr
ENST00000535336.5:c.269C>A	ENSP00000438525.1:p.Ser90Tyr
ENST00000535411.5:c.430C>A
ENST00000537009.5:c.*113C>A	ENSP00000439289.1:n.*113C>A
ENST00000538694.5:n.420C>A
ENST00000540087.5:c.431C>A	ENSP00000440496.1:p.Ser144Tyr
ENST00000543369.5:c.395C>A	ENSP00000441492.1:p.Ser132Tyr
ENST00000543467.5:c.179C>A	ENSP00000444531.1:p.Ser60Tyr
ENST00000544211.5:c.*113C>A	ENSP00000443839.1:n.*113C>A
NM_001297709.1:c.431C>A	NP_001284638.1:p.Ser144Tyr
NM_001297710.1:c.395C>A	NP_001284639.1:p.Ser132Tyr
NM_001297711.1:c.386C>A	NP_001284640.1:p.Ser129Tyr
NM_001297712.1:c.269C>A	NP_001284641.1:p.Ser90Tyr
NM_003480.3:c.461C>A	NP_003471.1:p.Ser154Tyr
NR_123733.1:n.794C>A
NR_123734.1:n.764C>A
NM_003480.4:c.461C>A MANE Select	NP_003471.1:p.Ser154Tyr
NM_001297709.2:c.431C>A	NP_001284638.1:p.Ser144Tyr
NM_001297710.2:c.395C>A	NP_001284639.1:p.Ser132Tyr
NM_001297711.2:c.386C>A	NP_001284640.1:p.Ser129Tyr
NM_001297712.2:c.269C>A	NP_001284641.1:p.Ser90Tyr
NR_123733.2:n.732C>A
NR_123734.2:n.702C>A