Canonical Allele Identifier: CA6248311
Gene: MMP20 HGNC NCBI
MMP20-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259541
ClinVar RCV Id: RCV000246718 RCV000395047 RCV001636785
dbSNP Id: rs1784423
ExAC: 11:102477395 A / G
gnomAD v2: 11-102477395-A-G
gnomAD v3: 11-102606664-A-G
gnomAD v4: 11-102606664-A-G
MyVariant Identifiers: chr11:g.102477395A>G (hg19) chr11:g.102606664A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102606664A>G , CM000673.2:g.102606664A>G GRCh38
NC_000011.9:g.102477395A>G , CM000673.1:g.102477395A>G GRCh37
NC_000011.8:g.101982605A>G NCBI36
NG_012151.1:g.23669T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260228.3:c.824T>C (MMP20) MANE Select ENSP00000260228.2:p.Val275Ala
ENST00000260228.2:c.824T>C (MMP20) ENSP00000260228.2:p.Val275Ala
ENST00000544938.1:n.280T>C (MMP20)
NM_004771.3:c.824T>C (MMP20) NP_004762.2:p.Val275Ala
XR_947956.1:n.448+59A>G
XR_001748340.1:n.1192+59A>G (MMP20-AS1)
NM_004771.4:c.824T>C (MMP20) MANE Select NP_004762.2:p.Val275Ala
Search 100 bp 5'
Search 100 bp 3'