Canonical Allele Identifier: CA13551977
Gene: MMP20 HGNC NCBI
gnomAD v2:
11:102465226 C / T
gnomAD v3:
11:102594495 C / T
gnomAD v4:
chr11-102594495-C-T
Joint Max Group AF 0.56626135 (SAS)
Genomes Max Group AF 0.56361603 (SAS)
Exomes Max Group AF 0.56540285 (SAS)
ClinVar RCV:
RCV001645432
ClinVar Variation:
1241687
dbSNP:
1711437
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102594495C>T , CM000673.2:g.102594495C>T GRCh38
NC_000011.9:g.102465226C>T , CM000673.1:g.102465226C>T GRCh37
NC_000011.8:g.101970436C>T NCBI36
NG_012151.1:g.35838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260228.3:c.1090+126G>A MANE Select ENSP00000260228.2:n.1090+126G>A
ENST00000260228.2:c.1090+126G>A ENSP00000260228.2:n.1090+126G>A
NM_004771.3:c.1090+126G>A NP_004762.2:n.1090+126G>A
NM_004771.4:c.1090+126G>A MANE Select NP_004762.2:n.1090+126G>A
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