Canonical Allele Identifier: CA10629705
Gene: MMP13 HGNC NCBI

Linked Data

ClinVar Variation Id: 301962
ClinVar RCV Id: RCV000305964 RCV000360736
dbSNP Id: rs1042840
gnomAD v2: 11-102814110-T-C
gnomAD v3: 11-102943381-T-C
gnomAD v4: 11-102943381-T-C
MyVariant Identifiers: chr11:g.102814110T>C (hg19) chr11:g.102943381T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102943381T>C , CM000673.2:g.102943381T>C GRCh38
NC_000011.9:g.102814110T>C , CM000673.1:g.102814110T>C GRCh37
NC_000011.8:g.102319320T>C NCBI36
NG_021404.1:g.17354A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260302.8:c.*885A>G MANE Select ENSP00000260302.3:n.*885A>G
ENST00000260302.7:c.*885A>G ENSP00000260302.3:n.*885A>G
NM_002427.3:c.*885A>G NP_002418.1:n.*885A>G
NM_002427.4:c.*885A>G MANE Select NP_002418.1:n.*885A>G
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