Canonical Allele Identifier: CA388930912
Gene: MMP14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843297T>G , CM000676.2:g.22843297T>G GRCh38
NC_000014.8:g.23312506T>G , CM000676.1:g.23312506T>G GRCh37
NC_000014.7:g.22382346T>G NCBI36
NG_046989.1:g.11765T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.729T>G MANE Select ENSP00000308208.6:p.His243Gln
ENST00000548162.2:c.729T>G ENSP00000506068.1:p.His243Gln
ENST00000680097.1:c.*44T>G ENSP00000506631.1:n.*44T>G
ENST00000680941.1:c.*127T>G ENSP00000506378.1:n.*127T>G
ENST00000311852.10:c.729T>G ENSP00000308208.6:p.His243Gln
ENST00000548162.1:n.971T>G
NM_004995.3:c.729T>G NP_004986.1:p.His243Gln
NM_004995.4:c.729T>G MANE Select NP_004986.1:p.His243Gln