Canonical Allele Identifier: CA10637273
Gene: MMP13 HGNC NCBI

Linked Data

ClinVar Variation Id: 301972
ClinVar RCV Id: RCV000300878 RCV000355637
dbSNP Id: rs555759372
gnomAD v2: 11-102814731-G-A
gnomAD v3: 11-102944002-G-A
gnomAD v4: 11-102944002-G-A
MyVariant Identifiers: chr11:g.102814731G>A (hg19) chr11:g.102944002G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102944002G>A , CM000673.2:g.102944002G>A GRCh38
NC_000011.9:g.102814731G>A , CM000673.1:g.102814731G>A GRCh37
NC_000011.8:g.102319941G>A NCBI36
NG_021404.1:g.16733C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260302.8:c.*264C>T MANE Select ENSP00000260302.3:n.*264C>T
ENST00000260302.7:c.*264C>T ENSP00000260302.3:n.*264C>T
NM_002427.3:c.*264C>T NP_002418.1:n.*264C>T
NM_002427.4:c.*264C>T MANE Select NP_002418.1:n.*264C>T
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