Canonical Allele Identifier: CA9886872
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs540473046
ExAC: 20:44644872 C / G
gnomAD v2: 20-44644872-C-G
gnomAD v3: 20-46016233-C-G
gnomAD v4: 20-46016233-C-G
MyVariant Identifiers: chr20:g.44644872C>G (hg19) chr20:g.46016233C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016233C>G , CM000682.2:g.46016233C>G GRCh38
NC_000020.10:g.44644872C>G , CM000682.1:g.44644872C>G GRCh37
NC_000020.9:g.44078279C>G NCBI36
NG_011468.1:g.12326C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2006-17C>G (MMP9) MANE Select ENSP00000361405.3:n.2006-17C>G
NM_004994.2:c.2006-17C>G (MMP9) NP_004985.2:n.2006-17C>G
NR_147699.1:n.669-1445G>C (SLC12A5-AS1)
NM_004994.3:c.2006-17C>G (MMP9) MANE Select NP_004985.2:n.2006-17C>G
Search 100 bp 5'
Search 100 bp 3'