Canonical Allele Identifier: CA9886509
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2542443
ClinVar RCV Id: RCV004308046
dbSNP Id: rs754141166
ExAC: 20:44639950 G / T
gnomAD v2: 20-44639950-G-T
gnomAD v4: 20-46011311-G-T
MyVariant Identifiers: chr20:g.44639950G>T (hg19) chr20:g.46011311G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011311G>T , CM000682.2:g.46011311G>T GRCh38
NC_000020.10:g.44639950G>T , CM000682.1:g.44639950G>T GRCh37
NC_000020.9:g.44073357G>T NCBI36
NG_011468.1:g.7404G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.818G>T MANE Select ENSP00000361405.3:p.Ser273Ile
NM_004994.2:c.818G>T NP_004985.2:p.Ser273Ile
NM_004994.3:c.818G>T MANE Select NP_004985.2:p.Ser273Ile
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