Canonical Allele Identifier: CA257746354
Gene: MMP14 HGNC NCBI

Linked Data

dbSNP Id: rs201684823
MyVariant Identifiers: chr14:g.23312546A>G (hg19) chr14:g.22843337A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843337A>G , CM000676.2:g.22843337A>G GRCh38
NC_000014.8:g.23312546A>G , CM000676.1:g.23312546A>G GRCh37
NC_000014.7:g.22382386A>G NCBI36
NG_046989.1:g.11805A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.769A>G MANE Select ENSP00000308208.6:p.Met257Val
ENST00000548162.2:c.769A>G ENSP00000506068.1:p.Met257Val
ENST00000680097.1:c.*84A>G ENSP00000506631.1:n.*84A>G
ENST00000680941.1:c.*167A>G ENSP00000506378.1:n.*167A>G
ENST00000311852.10:c.769A>G ENSP00000308208.6:p.Met257Val
ENST00000548162.1:n.1011A>G
NM_004995.3:c.769A>G NP_004986.1:p.Met257Val
NM_004995.4:c.769A>G MANE Select NP_004986.1:p.Met257Val
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