Canonical Allele Identifier: CA388930861
Gene: MMP14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843272T>G , CM000676.2:g.22843272T>G GRCh38
NC_000014.8:g.23312481T>G , CM000676.1:g.23312481T>G GRCh37
NC_000014.7:g.22382321T>G NCBI36
NG_046989.1:g.11740T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.704T>G MANE Select ENSP00000308208.6:p.Leu235Arg
ENST00000548162.2:c.704T>G ENSP00000506068.1:p.Leu235Arg
ENST00000680097.1:c.*19T>G ENSP00000506631.1:n.*19T>G
ENST00000680941.1:c.*102T>G ENSP00000506378.1:n.*102T>G
ENST00000311852.10:c.704T>G ENSP00000308208.6:p.Leu235Arg
ENST00000548162.1:n.946T>G
NM_004995.3:c.704T>G NP_004986.1:p.Leu235Arg
NM_004995.4:c.704T>G MANE Select NP_004986.1:p.Leu235Arg