Canonical Allele Identifier: CA9886567
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1938711
ClinVar RCV Id: RCV002646486 RCV003314742
dbSNP Id: rs202151407
ExAC: 20:44640347 T / A
gnomAD v2: 20-44640347-T-A
gnomAD v3: 20-46011708-T-A
gnomAD v4: 20-46011708-T-A
MyVariant Identifiers: chr20:g.44640347T>A (hg19) chr20:g.46011708T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011708T>A , CM000682.2:g.46011708T>A GRCh38
NC_000020.10:g.44640347T>A , CM000682.1:g.44640347T>A GRCh37
NC_000020.9:g.44073754T>A NCBI36
NG_011468.1:g.7801T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.958T>A MANE Select ENSP00000361405.3:p.Tyr320Asn
NM_004994.2:c.958T>A NP_004985.2:p.Tyr320Asn
NM_004994.3:c.958T>A MANE Select NP_004985.2:p.Tyr320Asn
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