Canonical Allele Identifier: CA127077

Gene: MMP9

Linked Data

• ClinVar Variation Id: 17107
• ClinVar RCV Id: RCV000018642 ; RCV001851918
• dbSNP Id: rs121434556
• ExAC: 20:44637567 T / A
• gnomAD v2: 20-44637567-T-A
• gnomAD v3: 20-46008928-T-A
• gnomAD v4: 20-46008928-T-A
• MyVariant Identifiers: chr20:g.44637567T>A (hg19) ; chr20:g.46008928T>A (hg38)
• PubMed: PMID:19615667

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46008928T>A , CM000682.2:g.46008928T>A	GRCh38
NC_000020.10:g.44637567T>A , CM000682.1:g.44637567T>A	GRCh37
NC_000020.9:g.44070974T>A	NCBI36
NG_011468.1:g.5021T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372330.3:c.2T>A MANE Select	ENSP00000361405.3:p.Met1Lys
NM_004994.2:c.2T>A	NP_004985.2:p.Met1Lys
NM_004994.3:c.2T>A MANE Select	NP_004985.2:p.Met1Lys