Canonical Allele Identifier: CA2617498708

Gene: MFAP5

Linked Data

• gnomAD v4: 12-8648064-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648064T>G , CM000674.2:g.8648064T>G	GRCh38
NC_000012.11:g.8800660T>G , CM000674.1:g.8800660T>G	GRCh37
NC_000012.10:g.8691927T>G	NCBI36
NG_041814.1:g.19825A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.*27A>C MANE Select	ENSP00000352455.2:n.*27A>C
ENST00000359478.6:c.*27A>C	ENSP00000352455.2:n.*27A>C
ENST00000396549.6:c.*27A>C	ENSP00000379798.2:n.*27A>C
ENST00000433590.6:c.*27A>C	ENSP00000411997.2:n.*27A>C
ENST00000535336.5:c.*27A>C	ENSP00000438525.1:n.*27A>C
ENST00000535411.5:c.518A>C
ENST00000543369.5:c.*27A>C	ENSP00000441492.1:n.*27A>C
ENST00000543467.5:c.267A>C	ENSP00000444531.1:n.267A>C
ENST00000544211.5:c.*201A>C	ENSP00000443839.1:n.*201A>C
NM_001297709.1:c.*27A>C	NP_001284638.1:n.*27A>C
NM_001297710.1:c.*27A>C	NP_001284639.1:n.*27A>C
NM_001297711.1:c.*27A>C	NP_001284640.1:n.*27A>C
NM_001297712.1:c.*27A>C	NP_001284641.1:n.*27A>C
NM_003480.3:c.*27A>C	NP_003471.1:n.*27A>C
NR_123733.1:n.882A>C
NR_123734.1:n.852A>C
NM_003480.4:c.*27A>C MANE Select	NP_003471.1:n.*27A>C
NM_001297709.2:c.*27A>C	NP_001284638.1:n.*27A>C
NM_001297710.2:c.*27A>C	NP_001284639.1:n.*27A>C
NM_001297711.2:c.*27A>C	NP_001284640.1:n.*27A>C
NM_001297712.2:c.*27A>C	NP_001284641.1:n.*27A>C
NR_123733.2:n.820A>C
NR_123734.2:n.790A>C