Canonical Allele Identifier: CA388930925
Gene: MMP14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843304G>T , CM000676.2:g.22843304G>T GRCh38
NC_000014.8:g.23312513G>T , CM000676.1:g.23312513G>T GRCh37
NC_000014.7:g.22382353G>T NCBI36
NG_046989.1:g.11772G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.736G>T MANE Select ENSP00000308208.6:p.Gly246Trp
ENST00000548162.2:c.736G>T ENSP00000506068.1:p.Gly246Trp
ENST00000680097.1:c.*51G>T ENSP00000506631.1:n.*51G>T
ENST00000680941.1:c.*134G>T ENSP00000506378.1:n.*134G>T
ENST00000311852.10:c.736G>T ENSP00000308208.6:p.Gly246Trp
ENST00000548162.1:n.978G>T
NM_004995.3:c.736G>T NP_004986.1:p.Gly246Trp
NM_004995.4:c.736G>T MANE Select NP_004986.1:p.Gly246Trp