Canonical Allele Identifier: CA227279883
Gene: MMP20 HGNC NCBI
COSMIC:
COSN19710817 (not active)
gnomAD v2:
11:102448256 A / G
gnomAD v3:
11:102577525 A / G
gnomAD v4:
chr11-102577525-A-G
Joint Max Group AF 0.77405512 (EAS)
Genomes Max Group AF 0.74945983 (AFR)
Exomes Max Group AF 0.77751501 (EAS)
ClinVar RCV:
RCV001670156
ClinVar Variation:
1262923
dbSNP:
2292730
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102577525A>G , CM000673.2:g.102577525A>G GRCh38
NC_000011.9:g.102448256A>G , CM000673.1:g.102448256A>G GRCh37
NC_000011.8:g.101953466A>G NCBI36
NG_012151.1:g.52808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260228.3:c.1352-99T>C MANE Select ENSP00000260228.2:n.1352-99T>C
ENST00000260228.2:c.1352-99T>C ENSP00000260228.2:n.1352-99T>C
ENST00000542305.1:n.250-99T>C
NM_004771.3:c.1352-99T>C NP_004762.2:n.1352-99T>C
NM_004771.4:c.1352-99T>C MANE Select NP_004762.2:n.1352-99T>C
Search 100 bp 5'
Search 100 bp 3'