Canonical Allele Identifier: CA409212932
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2276970
ClinVar RCV Id: RCV004124788
dbSNP Id: rs1263490093

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46010972G>A , CM000682.2:g.46010972G>A GRCh38
NC_000020.10:g.44639611G>A , CM000682.1:g.44639611G>A GRCh37
NC_000020.9:g.44073018G>A NCBI36
NG_011468.1:g.7065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.571G>A MANE Select ENSP00000361405.3:p.Ala191Thr
NM_004994.2:c.571G>A NP_004985.2:p.Ala191Thr
NM_004994.3:c.571G>A MANE Select NP_004985.2:p.Ala191Thr