Canonical Allele Identifier: CA384038707

Gene: MFAP5

Linked Data

• MyVariant Identifiers: chr12:g.8800749A>C (hg19) ; chr12:g.8648153A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648153A>C , CM000674.2:g.8648153A>C	GRCh38
NC_000012.11:g.8800749A>C , CM000674.1:g.8800749A>C	GRCh37
NC_000012.10:g.8692016A>C	NCBI36
NG_041814.1:g.19736T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.460T>G MANE Select	ENSP00000352455.2:p.Ser154Ala
ENST00000359478.6:c.460T>G	ENSP00000352455.2:p.Ser154Ala
ENST00000396549.6:c.430T>G	ENSP00000379798.2:p.Ser144Ala
ENST00000433590.6:c.385T>G	ENSP00000411997.2:p.Ser129Ala
ENST00000535336.5:c.268T>G	ENSP00000438525.1:p.Ser90Ala
ENST00000535411.5:c.429T>G
ENST00000537009.5:c.*112T>G	ENSP00000439289.1:n.*112T>G
ENST00000538694.5:n.419T>G
ENST00000540087.5:c.430T>G	ENSP00000440496.1:p.Ser144Ala
ENST00000543369.5:c.394T>G	ENSP00000441492.1:p.Ser132Ala
ENST00000543467.5:c.178T>G	ENSP00000444531.1:p.Ser60Ala
ENST00000544211.5:c.*112T>G	ENSP00000443839.1:n.*112T>G
NM_001297709.1:c.430T>G	NP_001284638.1:p.Ser144Ala
NM_001297710.1:c.394T>G	NP_001284639.1:p.Ser132Ala
NM_001297711.1:c.385T>G	NP_001284640.1:p.Ser129Ala
NM_001297712.1:c.268T>G	NP_001284641.1:p.Ser90Ala
NM_003480.3:c.460T>G	NP_003471.1:p.Ser154Ala
NR_123733.1:n.793T>G
NR_123734.1:n.763T>G
NM_003480.4:c.460T>G MANE Select	NP_003471.1:p.Ser154Ala
NM_001297709.2:c.430T>G	NP_001284638.1:p.Ser144Ala
NM_001297710.2:c.394T>G	NP_001284639.1:p.Ser132Ala
NM_001297711.2:c.385T>G	NP_001284640.1:p.Ser129Ala
NM_001297712.2:c.268T>G	NP_001284641.1:p.Ser90Ala
NR_123733.2:n.731T>G
NR_123734.2:n.701T>G