Canonical Allele Identifier: CA9886888
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs772727216
ExAC: 20:44644937 G / A
gnomAD v2: 20-44644937-G-A
gnomAD v3: 20-46016298-G-A
gnomAD v4: 20-46016298-G-A
MyVariant Identifiers: chr20:g.44644937G>A (hg19) chr20:g.46016298G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016298G>A , CM000682.2:g.46016298G>A GRCh38
NC_000020.10:g.44644937G>A , CM000682.1:g.44644937G>A GRCh37
NC_000020.9:g.44078344G>A NCBI36
NG_011468.1:g.12391G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2054G>A (MMP9) MANE Select ENSP00000361405.3:p.Arg685Gln
NM_004994.2:c.2054G>A (MMP9) NP_004985.2:p.Arg685Gln
NR_147699.1:n.669-1510C>T (SLC12A5-AS1)
NM_004994.3:c.2054G>A (MMP9) MANE Select NP_004985.2:p.Arg685Gln
Search 100 bp 5'
Search 100 bp 3'