Canonical Allele Identifier: CA9886814
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.46013767G>T
GRCh37 chr20:g.44642406G>T
Revel Score:
ENST00000372330 (MANE Select) 0.063
ENST00000545925 0.063
gnomAD v2:
20:44642406 G / T
gnomAD v3:
20:46013767 G / T
gnomAD v4:
chr20-46013767-G-T
Joint Max Group AF 0.00003069 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003085 (NFE)
ClinVar RCV:
RCV003843220
ClinVar Variation:
2984061
dbSNP:
2250889
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46013767G>T , CM000682.2:g.46013767G>T GRCh38
NC_000020.10:g.44642406G>T , CM000682.1:g.44642406G>T GRCh37
NC_000020.9:g.44075813G>T NCBI36
NG_011468.1:g.9860G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.1721G>T (MMP9) MANE Select ENSP00000361405.3:p.Arg574Leu
NM_004994.2:c.1721G>T (MMP9) NP_004985.2:p.Arg574Leu
NR_147699.1:n.1690C>A (SLC12A5-AS1)
NM_004994.3:c.1721G>T (MMP9) MANE Select NP_004985.2:p.Arg574Leu
Search 100 bp 5'
Search 100 bp 3'