Canonical Allele Identifier: CA384038699

Gene: MFAP5

Linked Data

• MyVariant Identifiers: chr12:g.8800745T>G (hg19) ; chr12:g.8648149T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648149T>G , CM000674.2:g.8648149T>G	GRCh38
NC_000012.11:g.8800745T>G , CM000674.1:g.8800745T>G	GRCh37
NC_000012.10:g.8692012T>G	NCBI36
NG_041814.1:g.19740A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.464A>C MANE Select	ENSP00000352455.2:p.Asn155Thr
ENST00000359478.6:c.464A>C	ENSP00000352455.2:p.Asn155Thr
ENST00000396549.6:c.434A>C	ENSP00000379798.2:p.Asn145Thr
ENST00000433590.6:c.389A>C	ENSP00000411997.2:p.Asn130Thr
ENST00000535336.5:c.272A>C	ENSP00000438525.1:p.Asn91Thr
ENST00000535411.5:c.433A>C
ENST00000537009.5:c.*116A>C	ENSP00000439289.1:n.*116A>C
ENST00000538694.5:n.423A>C
ENST00000540087.5:c.434A>C	ENSP00000440496.1:p.Asn145Thr
ENST00000543369.5:c.398A>C	ENSP00000441492.1:p.Asn133Thr
ENST00000543467.5:c.182A>C	ENSP00000444531.1:p.Asn61Thr
ENST00000544211.5:c.*116A>C	ENSP00000443839.1:n.*116A>C
NM_001297709.1:c.434A>C	NP_001284638.1:p.Asn145Thr
NM_001297710.1:c.398A>C	NP_001284639.1:p.Asn133Thr
NM_001297711.1:c.389A>C	NP_001284640.1:p.Asn130Thr
NM_001297712.1:c.272A>C	NP_001284641.1:p.Asn91Thr
NM_003480.3:c.464A>C	NP_003471.1:p.Asn155Thr
NR_123733.1:n.797A>C
NR_123734.1:n.767A>C
NM_003480.4:c.464A>C MANE Select	NP_003471.1:p.Asn155Thr
NM_001297709.2:c.434A>C	NP_001284638.1:p.Asn145Thr
NM_001297710.2:c.398A>C	NP_001284639.1:p.Asn133Thr
NM_001297711.2:c.389A>C	NP_001284640.1:p.Asn130Thr
NM_001297712.2:c.272A>C	NP_001284641.1:p.Asn91Thr
NR_123733.2:n.735A>C
NR_123734.2:n.705A>C