Canonical Allele Identifier: CA9886445
Gene: MMP9 HGNC NCBI

Linked Data

dbSNP Id: rs757099264
ExAC: 20:44639609 A / T
gnomAD v2: 20-44639609-A-T
gnomAD v4: 20-46010970-A-T
MyVariant Identifiers: chr20:g.44639609A>T (hg19) chr20:g.46010970A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46010970A>T , CM000682.2:g.46010970A>T GRCh38
NC_000020.10:g.44639609A>T , CM000682.1:g.44639609A>T GRCh37
NC_000020.9:g.44073016A>T NCBI36
NG_011468.1:g.7063A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.569A>T MANE Select ENSP00000361405.3:p.His190Leu
NM_004994.2:c.569A>T NP_004985.2:p.His190Leu
NM_004994.3:c.569A>T MANE Select NP_004985.2:p.His190Leu
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