Canonical Allele Identifier: CA9886896
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs778121963
ExAC: 20:44644961 A / G
gnomAD v2: 20-44644961-A-G
gnomAD v4: 20-46016322-A-G
MyVariant Identifiers: chr20:g.44644961A>G (hg19) chr20:g.46016322A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016322A>G , CM000682.2:g.46016322A>G GRCh38
NC_000020.10:g.44644961A>G , CM000682.1:g.44644961A>G GRCh37
NC_000020.9:g.44078368A>G NCBI36
NG_011468.1:g.12415A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372330.3:c.2078A>G (MMP9) MANE Select ENSP00000361405.3:p.Gln693Arg
NM_004994.2:c.2078A>G (MMP9) NP_004985.2:p.Gln693Arg
NR_147699.1:n.669-1534T>C (SLC12A5-AS1)
NM_004994.3:c.2078A>G (MMP9) MANE Select NP_004985.2:p.Gln693Arg
Search 100 bp 5'
Search 100 bp 3'