Canonical Allele Identifier: CA9886861
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI
COSMIC:
COSM4986887 (not active)
MyVariant.info:
GRCh38 chr20:g.46014472G>A
GRCh37 chr20:g.44643111G>A
Revel Score:
ENST00000372330 (MANE Select) 0.075
ENST00000545925 0.075
gnomAD v2:
20:44643111 G / A
gnomAD v3:
20:46014472 G / A
gnomAD v4:
chr20-46014472-G-A
Joint Max Group AF 0.28717356 (SAS)
Genomes Max Group AF 0.28551769 (SAS)
Exomes Max Group AF 0.28659139 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46014472G>A , CM000682.2:g.46014472G>A GRCh38
NC_000020.10:g.44643111G>A , CM000682.1:g.44643111G>A GRCh37
NC_000020.9:g.44076518G>A NCBI36
NG_011468.1:g.10565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2003G>A (MMP9) MANE Select ENSP00000361405.3:p.Arg668Gln
NM_004994.2:c.2003G>A (MMP9) NP_004985.2:p.Arg668Gln
NR_147699.1:n.985C>T (SLC12A5-AS1)
NM_004994.3:c.2003G>A (MMP9) MANE Select NP_004985.2:p.Arg668Gln
Search 100 bp 5'
Search 100 bp 3'