Canonical Allele Identifier: CA409227337
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1206068410
gnomAD v3: 20-46016265-G-T
gnomAD v4: 20-46016265-G-T
MyVariant Identifiers: chr20:g.44644904G>T (hg19) chr20:g.46016265G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016265G>T , CM000682.2:g.46016265G>T GRCh38
NC_000020.10:g.44644904G>T , CM000682.1:g.44644904G>T GRCh37
NC_000020.9:g.44078311G>T NCBI36
NG_011468.1:g.12358G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2021G>T (MMP9) MANE Select ENSP00000361405.3:p.Cys674Phe
NM_004994.2:c.2021G>T (MMP9) NP_004985.2:p.Cys674Phe
NR_147699.1:n.669-1477C>A (SLC12A5-AS1)
NM_004994.3:c.2021G>T (MMP9) MANE Select NP_004985.2:p.Cys674Phe
Search 100 bp 5'
Search 100 bp 3'