Canonical Allele Identifier: CA6251787

Gene: MMP13

Linked Data

• ClinVar Variation Id: 301979
• ClinVar RCV Id: RCV000283522 ; RCV000338592 ; RCV000969270 ; RCV002494946
• dbSNP Id: rs61737008
• ExAC: 11:102818751 A / G
• gnomAD v2: 11-102818751-A-G
• gnomAD v3: 11-102948022-A-G
• gnomAD v4: 11-102948022-A-G
• MyVariant Identifiers: chr11:g.102818751A>G (hg19) ; chr11:g.102948022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102948022A>G , CM000673.2:g.102948022A>G	GRCh38
NC_000011.9:g.102818751A>G , CM000673.1:g.102818751A>G	GRCh37
NC_000011.8:g.102323961A>G	NCBI36
NG_021404.1:g.12713T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260302.8:c.1080T>C MANE Select	ENSP00000260302.3:p.Tyr360=
ENST00000260302.7:c.1080T>C	ENSP00000260302.3:p.Tyr360=
ENST00000340273.4:c.1080T>C	ENSP00000339672.4:p.Tyr360=
ENST00000615555.4:c.1080T>C	ENSP00000482883.1:p.Tyr360=
NM_002427.3:c.1080T>C	NP_002418.1:p.Tyr360=
NM_002427.4:c.1080T>C MANE Select	NP_002418.1:p.Tyr360=