Canonical Allele Identifier: CA6251821
Gene: MMP13 HGNC NCBI

Linked Data

ClinVar Variation Id: 301980
ClinVar RCV Id: RCV000298241 RCV000406390
dbSNP Id: rs782152104
ExAC: 11:102819808 G / A
gnomAD v2: 11-102819808-G-A
gnomAD v3: 11-102949079-G-A
gnomAD v4: 11-102949079-G-A
MyVariant Identifiers: chr11:g.102819808G>A (hg19) chr11:g.102949079G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102949079G>A , CM000673.2:g.102949079G>A GRCh38
NC_000011.9:g.102819808G>A , CM000673.1:g.102819808G>A GRCh37
NC_000011.8:g.102325018G>A NCBI36
NG_021404.1:g.11656C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260302.8:c.997C>T MANE Select ENSP00000260302.3:p.Arg333Cys
ENST00000260302.7:c.997C>T ENSP00000260302.3:p.Arg333Cys
ENST00000340273.4:c.997C>T ENSP00000339672.4:p.Arg333Cys
ENST00000615555.4:c.997C>T ENSP00000482883.1:p.Arg333Cys
NM_002427.3:c.997C>T NP_002418.1:p.Arg333Cys
NM_002427.4:c.997C>T MANE Select NP_002418.1:p.Arg333Cys
Search 100 bp 5'
Search 100 bp 3'