Canonical Allele Identifier: CA603402872

Gene: MFAP5

Linked Data

• dbSNP Id: rs1478172460
• gnomAD v2: 12-8814997-T-C
• gnomAD v3: 12-8662401-T-C
• gnomAD v4: 12-8662401-T-C
• MyVariant Identifiers: chr12:g.8814997T>C (hg19) ; chr12:g.8662401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8662401T>C , CM000674.2:g.8662401T>C	GRCh38
NC_000012.11:g.8814997T>C , CM000674.1:g.8814997T>C	GRCh37
NC_000012.10:g.8706264T>C	NCBI36
NG_041814.1:g.5488A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.-3+226A>G MANE Select	ENSP00000352455.2:n.-3+226A>G
ENST00000359478.6:c.-3+226A>G	ENSP00000352455.2:n.-3+226A>G
ENST00000396549.6:c.-3+226A>G	ENSP00000379798.2:n.-3+226A>G
ENST00000433590.6:c.-3+226A>G	ENSP00000411997.2:n.-3+226A>G
ENST00000534833.5:n.49+226A>G
ENST00000535336.5:c.-3+226A>G	ENSP00000438525.1:n.-3+226A>G
ENST00000537009.5:c.-3+226A>G	ENSP00000439289.1:n.-3+226A>G
ENST00000537128.1:n.262+226A>G
ENST00000538107.5:n.262+226A>G
ENST00000543369.5:c.-3+226A>G	ENSP00000441492.1:n.-3+226A>G
ENST00000544211.5:c.-3+226A>G	ENSP00000443839.1:n.-3+226A>G
ENST00000544889.1:c.-91A>G	ENSP00000445799.1:n.-91A>G
NM_001297709.1:c.-3+226A>G	NP_001284638.1:n.-3+226A>G
NM_001297710.1:c.-3+226A>G	NP_001284639.1:n.-3+226A>G
NM_001297711.1:c.-3+226A>G	NP_001284640.1:n.-3+226A>G
NM_001297712.1:c.-3+226A>G	NP_001284641.1:n.-3+226A>G
NM_003480.3:c.-3+226A>G	NP_003471.1:n.-3+226A>G
NR_123733.1:n.262+226A>G
NR_123734.1:n.262+226A>G
NM_003480.4:c.-3+226A>G MANE Select	NP_003471.1:n.-3+226A>G
NM_001297709.2:c.-3+226A>G	NP_001284638.1:n.-3+226A>G
NM_001297710.2:c.-3+226A>G	NP_001284639.1:n.-3+226A>G
NM_001297711.2:c.-3+226A>G	NP_001284640.1:n.-3+226A>G
NM_001297712.2:c.-3+226A>G	NP_001284641.1:n.-3+226A>G
NR_123733.2:n.200+226A>G
NR_123734.2:n.200+226A>G