Canonical Allele Identifier: CA15971859
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs3918282
gnomAD v2: 20-44644709-G-A
gnomAD v3: 20-46016070-G-A
gnomAD v4: 20-46016070-G-A
MyVariant Identifiers: chr20:g.44644709G>A (hg19) chr20:g.46016070G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016070G>A , CM000682.2:g.46016070G>A GRCh38
NC_000020.10:g.44644709G>A , CM000682.1:g.44644709G>A GRCh37
NC_000020.9:g.44078116G>A NCBI36
NG_011468.1:g.12163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2006-180G>A (MMP9) MANE Select ENSP00000361405.3:n.2006-180G>A
NM_004994.2:c.2006-180G>A (MMP9) NP_004985.2:n.2006-180G>A
NR_147699.1:n.669-1282C>T (SLC12A5-AS1)
NM_004994.3:c.2006-180G>A (MMP9) MANE Select NP_004985.2:n.2006-180G>A
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