Canonical Allele Identifier: CA6434552

Gene: MFAP5

Linked Data

• dbSNP Id: rs750294101
• ExAC: 12:8800668 C / T
• gnomAD v2: 12-8800668-C-T
• gnomAD v3: 12-8648072-C-T
• gnomAD v4: 12-8648072-C-T
• MyVariant Identifiers: chr12:g.8800668C>T (hg19) ; chr12:g.8648072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648072C>T , CM000674.2:g.8648072C>T	GRCh38
NC_000012.11:g.8800668C>T , CM000674.1:g.8800668C>T	GRCh37
NC_000012.10:g.8691935C>T	NCBI36
NG_041814.1:g.19817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.*19G>A MANE Select	ENSP00000352455.2:n.*19G>A
ENST00000359478.6:c.*19G>A	ENSP00000352455.2:n.*19G>A
ENST00000396549.6:c.*19G>A	ENSP00000379798.2:n.*19G>A
ENST00000433590.6:c.*19G>A	ENSP00000411997.2:n.*19G>A
ENST00000535336.5:c.*19G>A	ENSP00000438525.1:n.*19G>A
ENST00000535411.5:c.510G>A
ENST00000543369.5:c.*19G>A	ENSP00000441492.1:n.*19G>A
ENST00000543467.5:c.259G>A	ENSP00000444531.1:n.259G>A
ENST00000544211.5:c.*193G>A	ENSP00000443839.1:n.*193G>A
NM_001297709.1:c.*19G>A	NP_001284638.1:n.*19G>A
NM_001297710.1:c.*19G>A	NP_001284639.1:n.*19G>A
NM_001297711.1:c.*19G>A	NP_001284640.1:n.*19G>A
NM_001297712.1:c.*19G>A	NP_001284641.1:n.*19G>A
NM_003480.3:c.*19G>A	NP_003471.1:n.*19G>A
NR_123733.1:n.874G>A
NR_123734.1:n.844G>A
NM_003480.4:c.*19G>A MANE Select	NP_003471.1:n.*19G>A
NM_001297709.2:c.*19G>A	NP_001284638.1:n.*19G>A
NM_001297710.2:c.*19G>A	NP_001284639.1:n.*19G>A
NM_001297711.2:c.*19G>A	NP_001284640.1:n.*19G>A
NM_001297712.2:c.*19G>A	NP_001284641.1:n.*19G>A
NR_123733.2:n.812G>A
NR_123734.2:n.782G>A