Canonical Allele Identifier: CA10653167
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 338564
ClinVar RCV Id: RCV000372695
dbSNP Id: rs886056716
gnomAD v4: 20-46016557-C-T
MyVariant Identifiers: chr20:g.44645196C>T (hg19) chr20:g.46016557C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016557C>T , CM000682.2:g.46016557C>T GRCh38
NC_000020.10:g.44645196C>T , CM000682.1:g.44645196C>T GRCh37
NC_000020.9:g.44078603C>T NCBI36
NG_011468.1:g.12650C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.*189C>T (MMP9) MANE Select ENSP00000361405.3:n.*189C>T
NM_004994.2:c.*189C>T (MMP9) NP_004985.2:n.*189C>T
NR_147699.1:n.669-1769G>A (SLC12A5-AS1)
NM_004994.3:c.*189C>T (MMP9) MANE Select NP_004985.2:n.*189C>T
Search 100 bp 5'
Search 100 bp 3'