Canonical Allele Identifier: CA6251712

Gene: MMP13

Linked Data

• ClinVar Variation Id: 301975
• ClinVar RCV Id: RCV000331254 ; RCV000385712 ; RCV002056166
• dbSNP Id: rs373735518
• ExAC: 11:102816360 A / G
• gnomAD v2: 11-102816360-A-G
• gnomAD v3: 11-102945631-A-G
• gnomAD v4: 11-102945631-A-G
• MyVariant Identifiers: chr11:g.102816360A>G (hg19) ; chr11:g.102945631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102945631A>G , CM000673.2:g.102945631A>G	GRCh38
NC_000011.9:g.102816360A>G , CM000673.1:g.102816360A>G	GRCh37
NC_000011.8:g.102321570A>G	NCBI36
NG_021404.1:g.15104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260302.8:c.1315+15T>C MANE Select	ENSP00000260302.3:n.1315+15T>C
ENST00000260302.7:c.1315+15T>C	ENSP00000260302.3:n.1315+15T>C
ENST00000340273.4:c.1315+15T>C	ENSP00000339672.4:n.1315+15T>C
ENST00000615555.4:c.1140-1476T>C	ENSP00000482883.1:n.1140-1476T>C
NM_002427.3:c.1315+15T>C	NP_002418.1:n.1315+15T>C
NM_002427.4:c.1315+15T>C MANE Select	NP_002418.1:n.1315+15T>C