Canonical Allele Identifier: CA9886886
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs761745560
ExAC: 20:44644932 T / C
gnomAD v2: 20-44644932-T-C
gnomAD v3: 20-46016293-T-C
gnomAD v4: 20-46016293-T-C
MyVariant Identifiers: chr20:g.44644932T>C (hg19) chr20:g.46016293T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016293T>C , CM000682.2:g.46016293T>C GRCh38
NC_000020.10:g.44644932T>C , CM000682.1:g.44644932T>C GRCh37
NC_000020.9:g.44078339T>C NCBI36
NG_011468.1:g.12386T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372330.3:c.2049T>C (MMP9) MANE Select ENSP00000361405.3:p.Ser683=
NM_004994.2:c.2049T>C (MMP9) NP_004985.2:p.Ser683=
NR_147699.1:n.669-1505A>G (SLC12A5-AS1)
NM_004994.3:c.2049T>C (MMP9) MANE Select NP_004985.2:p.Ser683=
Search 100 bp 5'
Search 100 bp 3'