Canonical Allele Identifier: CA6248290

Gene: MMP20 MMP20-AS1

Linked Data

• ClinVar Variation Id: 301942
• ClinVar RCV Id: RCV000395040 ; RCV001850596
• dbSNP Id: rs148818720
• ExAC: 11:102477309 C / T
• gnomAD v2: 11-102477309-C-T
• gnomAD v3: 11-102606578-C-T
• gnomAD v4: 11-102606578-C-T
• MyVariant Identifiers: chr11:g.102477309C>T (hg19) ; chr11:g.102606578C>T (hg38)
• PubMed: PMID:19966041

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102606578C>T , CM000673.2:g.102606578C>T	GRCh38
NC_000011.9:g.102477309C>T , CM000673.1:g.102477309C>T	GRCh37
NC_000011.8:g.101982519C>T	NCBI36
NG_012151.1:g.23755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260228.3:c.910G>A (MMP20) MANE Select	ENSP00000260228.2:p.Ala304Thr
ENST00000260228.2:c.910G>A (MMP20)	ENSP00000260228.2:p.Ala304Thr
ENST00000544938.1:n.366G>A (MMP20)
NM_004771.3:c.910G>A (MMP20)	NP_004762.2:p.Ala304Thr
XR_947956.1:n.421C>T
XR_001748340.1:n.1165C>T (MMP20-AS1)
NM_004771.4:c.910G>A (MMP20) MANE Select	NP_004762.2:p.Ala304Thr