Canonical Allele Identifier: CA6250189
Gene: MMP10 HGNC NCBI
WTAPP1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.102779693C>T
GRCh37 chr11:g.102650424C>T
Revel Score:
ENST00000279441 (MANE Select) 0.070
ENST00000539681 0.070
gnomAD v2:
11:102650424 C / T
gnomAD v3:
11:102779693 C / T
gnomAD v4:
chr11-102779693-C-T
Joint Max Group AF 0.16009722 (NFE)
Genomes Max Group AF 0.15784998 (NFE)
Exomes Max Group AF 0.1600995 (NFE)
dbSNP:
486055
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102779693C>T , CM000673.2:g.102779693C>T GRCh38
NC_000011.9:g.102650424C>T , CM000673.1:g.102650424C>T GRCh37
NC_000011.8:g.102155634C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000279441.9:c.158G>A (MMP10) MANE Select ENSP00000279441.4:p.Arg53Lys
ENST00000279441.8:c.158G>A (MMP10) ENSP00000279441.4:p.Arg53Lys
ENST00000371455.7:n.325-18331C>T (WTAPP1)
ENST00000539681.1:c.158G>A (MMP10) ENSP00000441485.1:p.Arg53Lys
NM_002425.2:c.158G>A (MMP10) NP_002416.1:p.Arg53Lys
NM_002425.3:c.158G>A (MMP10) MANE Select NP_002416.1:p.Arg53Lys
Search 100 bp 5'
Search 100 bp 3'