Canonical Allele Identifier: CA6251674

Gene: MMP13

Linked Data

• ClinVar Variation Id: 301974
• ClinVar RCV Id: RCV000276220 ; RCV000370540 ; RCV000988628 ; RCV001054763
• dbSNP Id: rs142064825
• ExAC: 11:102815039 G / A
• gnomAD v2: 11-102815039-G-A
• gnomAD v3: 11-102944310-G-A
• gnomAD v4: 11-102944310-G-A
• MyVariant Identifiers: chr11:g.102815039G>A (hg19) ; chr11:g.102944310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102944310G>A , CM000673.2:g.102944310G>A	GRCh38
NC_000011.9:g.102815039G>A , CM000673.1:g.102815039G>A	GRCh37
NC_000011.8:g.102320249G>A	NCBI36
NG_021404.1:g.16425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260302.8:c.1372C>T MANE Select	ENSP00000260302.3:p.Arg458Cys
ENST00000260302.7:c.1372C>T	ENSP00000260302.3:p.Arg458Cys
ENST00000615555.4:c.1140-155C>T	ENSP00000482883.1:n.1140-155C>T
NM_002427.3:c.1372C>T	NP_002418.1:p.Arg458Cys
NM_002427.4:c.1372C>T MANE Select	NP_002418.1:p.Arg458Cys