Canonical Allele Identifier: CA409212976

Gene: MMP9

Linked Data

• dbSNP Id: rs1326291859
• gnomAD v3: 20-46010994-T-A
• gnomAD v4: 20-46010994-T-A
• MyVariant Identifiers: chr20:g.44639633T>A (hg19) ; chr20:g.46010994T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46010994T>A , CM000682.2:g.46010994T>A	GRCh38
NC_000020.10:g.44639633T>A , CM000682.1:g.44639633T>A	GRCh37
NC_000020.9:g.44073040T>A	NCBI36
NG_011468.1:g.7087T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.593T>A MANE Select	ENSP00000361405.3:p.Ile198Asn
NM_004994.2:c.593T>A	NP_004985.2:p.Ile198Asn
NM_004994.3:c.593T>A MANE Select	NP_004985.2:p.Ile198Asn