Canonical Allele Identifier: CA478468182

Gene: MFAP5

Linked Data

• MyVariant Identifiers: chr12:g.8814653G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8662057G>T , CM000674.2:g.8662057G>T	GRCh38
NC_000012.11:g.8814653G>T , CM000674.1:g.8814653G>T	GRCh37
NC_000012.10:g.8705920G>T	NCBI36
NG_041814.1:g.5832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.48C>A MANE Select	ENSP00000352455.2:p.Ile16=
ENST00000359478.6:c.48C>A	ENSP00000352455.2:p.Ile16=
ENST00000396549.6:c.48C>A	ENSP00000379798.2:p.Ile16=
ENST00000433590.6:c.48C>A	ENSP00000411997.2:p.Ile16=
ENST00000534833.5:n.99C>A
ENST00000535336.5:c.48C>A	ENSP00000438525.1:p.Ile16=
ENST00000535411.5:c.17C>A
ENST00000537009.5:c.48C>A	ENSP00000439289.1:p.Ile16=
ENST00000537128.1:n.312C>A
ENST00000538107.5:n.312C>A
ENST00000540087.5:c.48C>A	ENSP00000440496.1:p.Ile16=
ENST00000543369.5:c.48C>A	ENSP00000441492.1:p.Ile16=
ENST00000544211.5:c.48C>A	ENSP00000443839.1:p.Ile16=
ENST00000544889.1:c.48C>A	ENSP00000445799.1:p.Ile16=
NM_001297709.1:c.48C>A	NP_001284638.1:p.Ile16=
NM_001297710.1:c.48C>A	NP_001284639.1:p.Ile16=
NM_001297711.1:c.48C>A	NP_001284640.1:p.Ile16=
NM_001297712.1:c.48C>A	NP_001284641.1:p.Ile16=
NM_003480.3:c.48C>A	NP_003471.1:p.Ile16=
NR_123733.1:n.312C>A
NR_123734.1:n.312C>A
NM_003480.4:c.48C>A MANE Select	NP_003471.1:p.Ile16=
NM_001297709.2:c.48C>A	NP_001284638.1:p.Ile16=
NM_001297710.2:c.48C>A	NP_001284639.1:p.Ile16=
NM_001297711.2:c.48C>A	NP_001284640.1:p.Ile16=
NM_001297712.2:c.48C>A	NP_001284641.1:p.Ile16=
NR_123733.2:n.250C>A
NR_123734.2:n.250C>A