Canonical Allele Identifier: CA5835282
Gene: MMP26 HGNC NCBI
OR51F1 HGNC NCBI

Linked Data

dbSNP Id: rs11033797
gnomAD v2: 11-4790857-A-G
gnomAD v3: 11-4769627-A-G
gnomAD v4: 11-4769627-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4769627A>G , CM000673.2:g.4769627A>G GRCh38
NC_000011.9:g.4790857A>G , CM000673.1:g.4790857A>G GRCh37
NC_000011.8:g.4747433A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000300762.2:c.-153+2286A>G (MMP26) ENSP00000300762.2:n.-153+2286A>G
ENST00000380390.6:c.-145+2286A>G (MMP26) MANE Select ENSP00000369753.1:n.-145+2286A>G
ENST00000624103.2:c.312T>C (OR51F1) MANE Select ENSP00000485387.2:p.Tyr104=
ENST00000343430.3:c.291T>C ENSP00000345163.3:p.Tyr97=
ENST00000380383.1:c.312T>C (OR51F1) ENSP00000369744.1:p.Tyr104=
ENST00000380390.5:c.-145+2286A>G (MMP26) ENSP00000369753.1:n.-145+2286A>G
ENST00000477339.5:n.191+2286A>G (MMP26)
ENST00000624103.1:c.291T>C (OR51F1) ENSP00000485387.1:p.Tyr97=
NM_001004752.1:c.291T>C (OR51F1) NP_001004752.1:p.Tyr97=
NM_001004752.2:c.312T>C (OR51F1) MANE Select NP_001004752.2:p.Tyr104=
NM_001384608.1:c.-153+2286A>G (MMP26) NP_001371537.1:n.-153+2286A>G
NM_021801.5:c.-145+2286A>G (MMP26) MANE Select NP_068573.2:n.-145+2286A>G