Canonical Allele Identifier: CA382216353
Gene: MMP27 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102696379A>C , CM000673.2:g.102696379A>C GRCh38
NC_000011.9:g.102567110A>C , CM000673.1:g.102567110A>C GRCh37
NC_000011.8:g.102072320A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260229.5:c.894T>G MANE Select ENSP00000260229.4:p.Phe298Leu
ENST00000260229.4:c.894T>G ENSP00000260229.4:p.Phe298Leu
NM_022122.2:c.894T>G NP_071405.2:p.Phe298Leu
XM_011542948.1:c.765T>G XP_011541250.1:p.Phe255Leu
XM_011542949.1:c.732T>G XP_011541251.1:p.Phe244Leu
XM_011542950.1:c.579T>G XP_011541252.1:p.Phe193Leu
XM_011542951.1:c.894T>G XP_011541253.1:p.Phe298Leu
XM_011542948.2:c.765T>G XP_011541250.1:p.Phe255Leu
XM_011542949.2:c.732T>G XP_011541251.1:p.Phe244Leu
XM_011542950.3:c.579T>G XP_011541252.1:p.Phe193Leu
XM_017018120.1:c.891T>G XP_016873609.1:p.Phe297Leu
NM_022122.3:c.894T>G MANE Select NP_071405.2:p.Phe298Leu