Canonical Allele Identifier: CA9886433

Gene: MMP9

Linked Data

• dbSNP Id: rs768898768
• ExAC: 20:44639576 A / G
• gnomAD v2: 20-44639576-A-G
• gnomAD v3: 20-46010937-A-G
• gnomAD v4: 20-46010937-A-G
• MyVariant Identifiers: chr20:g.44639576A>G (hg19) ; chr20:g.46010937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46010937A>G , CM000682.2:g.46010937A>G	GRCh38
NC_000020.10:g.44639576A>G , CM000682.1:g.44639576A>G	GRCh37
NC_000020.9:g.44072983A>G	NCBI36
NG_011468.1:g.7030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.536A>G MANE Select	ENSP00000361405.3:p.Tyr179Cys
NM_004994.2:c.536A>G	NP_004985.2:p.Tyr179Cys
NM_004994.3:c.536A>G MANE Select	NP_004985.2:p.Tyr179Cys