Canonical Allele Identifier: CA409213315

Gene: MMP9

Linked Data

• dbSNP Id: rs1366255883
• gnomAD v2: 20-44639818-C-A
• gnomAD v4: 20-46011179-C-A
• MyVariant Identifiers: chr20:g.44639818C>A (hg19) ; chr20:g.46011179C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46011179C>A , CM000682.2:g.46011179C>A	GRCh38
NC_000020.10:g.44639818C>A , CM000682.1:g.44639818C>A	GRCh37
NC_000020.9:g.44073225C>A	NCBI36
NG_011468.1:g.7272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.686C>A MANE Select	ENSP00000361405.3:p.Ala229Asp
NM_004994.2:c.686C>A	NP_004985.2:p.Ala229Asp
NM_004994.3:c.686C>A MANE Select	NP_004985.2:p.Ala229Asp