Canonical Allele Identifier: CA2123185304
Gene: MMP14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843303G= , CM000676.2:g.22843303G= GRCh38
NC_000014.8:g.23312512G= , CM000676.1:g.23312512G= GRCh37
NC_000014.7:g.22382352G= NCBI36
NG_046989.1:g.11771G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.735G= MANE Select ENSP00000308208.6:p.Leu245=
ENST00000548162.2:c.735G= ENSP00000506068.1:p.Leu245=
ENST00000680097.1:c.*50G= ENSP00000506631.1:n.*50G=
ENST00000680941.1:c.*133G= ENSP00000506378.1:n.*133G=
ENST00000311852.10:c.735G= ENSP00000308208.6:p.Leu245=
ENST00000548162.1:n.977G=
NM_004995.3:c.735G= NP_004986.1:p.Leu245=
NM_004995.4:c.735G= MANE Select NP_004986.1:p.Leu245=