Canonical Allele Identifier: CA217091856
Gene: MMP26 HGNC NCBI
OR51S1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.4848826A>G
GRCh37 chr11:g.4870056A>G
Revel Score:
ENST00000322101 (MANE Select) 0.153
gnomAD v3:
11:4848826 A / G
gnomAD v4:
chr11-4848826-A-G
Joint Max Group AF 0.00000365 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV004232545
ClinVar Variation:
2393149
dbSNP:
932998200
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4848826A>G , CM000673.2:g.4848826A>G GRCh38
NC_000011.9:g.4870056A>G , CM000673.1:g.4870056A>G GRCh37
NC_000011.8:g.4826632A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000300762.2:c.-153+81485A>G (MMP26) ENSP00000300762.2:n.-153+81485A>G
ENST00000322101.5:c.383T>C (OR51S1) MANE Select ENSP00000322754.2:p.Ile128Thr
ENST00000380390.6:c.-145+81485A>G (MMP26) MANE Select ENSP00000369753.1:n.-145+81485A>G
ENST00000322101.4:c.383T>C (OR51S1) ENSP00000322754.2:p.Ile128Thr
ENST00000322101.3:c.383T>C (OR51S1) ENSP00000322754.2:p.Ile128Thr
ENST00000380390.5:c.-145+81485A>G (MMP26) ENSP00000369753.1:n.-145+81485A>G
ENST00000477339.5:n.191+81485A>G (MMP26)
NM_001004758.1:c.383T>C (OR51S1) MANE Select NP_001004758.1:p.Ile128Thr
XM_011519884.1:c.383T>C (OR51S1) XP_011518186.1:p.Ile128Thr
NM_001384608.1:c.-153+81485A>G (MMP26) NP_001371537.1:n.-153+81485A>G
NM_021801.5:c.-145+81485A>G (MMP26) MANE Select NP_068573.2:n.-145+81485A>G
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