Canonical Allele Identifier: CA409228203
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.44644984A>C (hg19) chr20:g.46016345A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016345A>C , CM000682.2:g.46016345A>C GRCh38
NC_000020.10:g.44644984A>C , CM000682.1:g.44644984A>C GRCh37
NC_000020.9:g.44078391A>C NCBI36
NG_011468.1:g.12438A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372330.3:c.2101A>C (MMP9) MANE Select ENSP00000361405.3:p.Ile701Leu
NM_004994.2:c.2101A>C (MMP9) NP_004985.2:p.Ile701Leu
NR_147699.1:n.669-1557T>G (SLC12A5-AS1)
NM_004994.3:c.2101A>C (MMP9) MANE Select NP_004985.2:p.Ile701Leu
Search 100 bp 5'
Search 100 bp 3'