Canonical Allele Identifier: CA388929598
Community Standard Title: NM_004995.4(MMP14):c.332G>A (p.Arg111His)
Gene: MMP14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22841987G>A , CM000676.2:g.22841987G>A GRCh38
NC_000014.8:g.23311196G>A , CM000676.1:g.23311196G>A GRCh37
NC_000014.7:g.22381036G>A NCBI36
NG_046989.1:g.10455G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004995.4:c.332G>A MANE Select NP_004986.1:p.Arg111His
ENST00000311852.11:c.332G>A MANE Select ENSP00000308208.6:p.Arg111His
NM_004995.3:c.332G>A NP_004986.1:p.Arg111His
ENST00000311852.10:c.332G>A ENSP00000308208.6:p.Arg111His
ENST00000547596.1:n.94G>A
ENST00000548162.1:n.574G>A
ENST00000548162.2:c.332G>A ENSP00000506068.1:p.Arg111His
ENST00000548761.1:c.350G>A ENSP00000446989.1:p.Arg117His
ENST00000680097.1:c.332G>A ENSP00000506631.1:p.Arg111His
ENST00000680941.1:c.332G>A ENSP00000506378.1:p.Arg111His