Canonical Allele Identifier: CA10636838

Gene: MMP13

Linked Data

• ClinVar Variation Id: 301968
• ClinVar RCV Id: RCV000347361 ; RCV000404570
• dbSNP Id: rs182315436
• gnomAD v2: 11-102814569-T-C
• gnomAD v3: 11-102943840-T-C
• gnomAD v4: 11-102943840-T-C
• MyVariant Identifiers: chr11:g.102814569T>C (hg19) ; chr11:g.102943840T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102943840T>C , CM000673.2:g.102943840T>C	GRCh38
NC_000011.9:g.102814569T>C , CM000673.1:g.102814569T>C	GRCh37
NC_000011.8:g.102319779T>C	NCBI36
NG_021404.1:g.16895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260302.8:c.*426A>G MANE Select	ENSP00000260302.3:n.*426A>G
ENST00000260302.7:c.*426A>G	ENSP00000260302.3:n.*426A>G
NM_002427.3:c.*426A>G	NP_002418.1:n.*426A>G
NM_002427.4:c.*426A>G MANE Select	NP_002418.1:n.*426A>G