Canonical Allele Identifier: CA2575070546
Gene: MFAP5 HGNC NCBI

Linked Data

gnomAD v4: 12-8662182-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8662182C>A , CM000674.2:g.8662182C>A GRCh38
NC_000012.11:g.8814778C>A , CM000674.1:g.8814778C>A GRCh37
NC_000012.10:g.8706045C>A NCBI36
NG_041814.1:g.5707G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359478.7:c.-2-76G>T MANE Select ENSP00000352455.2:n.-2-76G>T
ENST00000359478.6:c.-2-76G>T ENSP00000352455.2:n.-2-76G>T
ENST00000396549.6:c.-2-76G>T ENSP00000379798.2:n.-2-76G>T
ENST00000433590.6:c.-2-76G>T ENSP00000411997.2:n.-2-76G>T
ENST00000534833.5:n.50-76G>T
ENST00000535336.5:c.-2-76G>T ENSP00000438525.1:n.-2-76G>T
ENST00000537009.5:c.-2-76G>T ENSP00000439289.1:n.-2-76G>T
ENST00000537128.1:n.263-76G>T
ENST00000538107.5:n.263-76G>T
ENST00000543369.5:c.-2-76G>T ENSP00000441492.1:n.-2-76G>T
ENST00000544211.5:c.-2-76G>T ENSP00000443839.1:n.-2-76G>T
ENST00000544889.1:c.-2-76G>T ENSP00000445799.1:n.-2-76G>T
NM_001297709.1:c.-2-76G>T NP_001284638.1:n.-2-76G>T
NM_001297710.1:c.-2-76G>T NP_001284639.1:n.-2-76G>T
NM_001297711.1:c.-2-76G>T NP_001284640.1:n.-2-76G>T
NM_001297712.1:c.-2-76G>T NP_001284641.1:n.-2-76G>T
NM_003480.3:c.-2-76G>T NP_003471.1:n.-2-76G>T
NR_123733.1:n.263-76G>T
NR_123734.1:n.263-76G>T
NM_003480.4:c.-2-76G>T MANE Select NP_003471.1:n.-2-76G>T
NM_001297709.2:c.-2-76G>T NP_001284638.1:n.-2-76G>T
NM_001297710.2:c.-2-76G>T NP_001284639.1:n.-2-76G>T
NM_001297711.2:c.-2-76G>T NP_001284640.1:n.-2-76G>T
NM_001297712.2:c.-2-76G>T NP_001284641.1:n.-2-76G>T
NR_123733.2:n.201-76G>T
NR_123734.2:n.201-76G>T