Canonical Allele Identifier: CA9886870
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs200013592
ExAC: 20:44644864 T / C
gnomAD v2: 20-44644864-T-C
gnomAD v3: 20-46016225-T-C
gnomAD v4: 20-46016225-T-C
MyVariant Identifiers: chr20:g.44644864T>C (hg19) chr20:g.46016225T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016225T>C , CM000682.2:g.46016225T>C GRCh38
NC_000020.10:g.44644864T>C , CM000682.1:g.44644864T>C GRCh37
NC_000020.9:g.44078271T>C NCBI36
NG_011468.1:g.12318T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372330.3:c.2006-25T>C (MMP9) MANE Select ENSP00000361405.3:n.2006-25T>C
NM_004994.2:c.2006-25T>C (MMP9) NP_004985.2:n.2006-25T>C
NR_147699.1:n.669-1437A>G (SLC12A5-AS1)
NM_004994.3:c.2006-25T>C (MMP9) MANE Select NP_004985.2:n.2006-25T>C
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