Canonical Allele Identifier: CA384038702

Gene: MFAP5

Linked Data

• MyVariant Identifiers: chr12:g.8800746T>G (hg19) ; chr12:g.8648150T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648150T>G , CM000674.2:g.8648150T>G	GRCh38
NC_000012.11:g.8800746T>G , CM000674.1:g.8800746T>G	GRCh37
NC_000012.10:g.8692013T>G	NCBI36
NG_041814.1:g.19739A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.463A>C MANE Select	ENSP00000352455.2:p.Asn155His
ENST00000359478.6:c.463A>C	ENSP00000352455.2:p.Asn155His
ENST00000396549.6:c.433A>C	ENSP00000379798.2:p.Asn145His
ENST00000433590.6:c.388A>C	ENSP00000411997.2:p.Asn130His
ENST00000535336.5:c.271A>C	ENSP00000438525.1:p.Asn91His
ENST00000535411.5:c.432A>C
ENST00000537009.5:c.*115A>C	ENSP00000439289.1:n.*115A>C
ENST00000538694.5:n.422A>C
ENST00000540087.5:c.433A>C	ENSP00000440496.1:p.Asn145His
ENST00000543369.5:c.397A>C	ENSP00000441492.1:p.Asn133His
ENST00000543467.5:c.181A>C	ENSP00000444531.1:p.Asn61His
ENST00000544211.5:c.*115A>C	ENSP00000443839.1:n.*115A>C
NM_001297709.1:c.433A>C	NP_001284638.1:p.Asn145His
NM_001297710.1:c.397A>C	NP_001284639.1:p.Asn133His
NM_001297711.1:c.388A>C	NP_001284640.1:p.Asn130His
NM_001297712.1:c.271A>C	NP_001284641.1:p.Asn91His
NM_003480.3:c.463A>C	NP_003471.1:p.Asn155His
NR_123733.1:n.796A>C
NR_123734.1:n.766A>C
NM_003480.4:c.463A>C MANE Select	NP_003471.1:p.Asn155His
NM_001297709.2:c.433A>C	NP_001284638.1:p.Asn145His
NM_001297710.2:c.397A>C	NP_001284639.1:p.Asn133His
NM_001297711.2:c.388A>C	NP_001284640.1:p.Asn130His
NM_001297712.2:c.271A>C	NP_001284641.1:p.Asn91His
NR_123733.2:n.734A>C
NR_123734.2:n.704A>C