Canonical Allele Identifier: CA388930874
Gene: MMP14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843280G>A , CM000676.2:g.22843280G>A GRCh38
NC_000014.8:g.23312489G>A , CM000676.1:g.23312489G>A GRCh37
NC_000014.7:g.22382329G>A NCBI36
NG_046989.1:g.11748G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.712G>A MANE Select ENSP00000308208.6:p.Val238Met
ENST00000548162.2:c.712G>A ENSP00000506068.1:p.Val238Met
ENST00000680097.1:c.*27G>A ENSP00000506631.1:n.*27G>A
ENST00000680941.1:c.*110G>A ENSP00000506378.1:n.*110G>A
ENST00000311852.10:c.712G>A ENSP00000308208.6:p.Val238Met
ENST00000548162.1:n.954G>A
NM_004995.3:c.712G>A NP_004986.1:p.Val238Met
NM_004995.4:c.712G>A MANE Select NP_004986.1:p.Val238Met