Canonical Allele Identifier: CA9886881

Gene: MMP9 SLC12A5-AS1

Linked Data

• dbSNP Id: rs771094559
• ExAC: 20:44644924 C / T
• gnomAD v2: 20-44644924-C-T
• gnomAD v3: 20-46016285-C-T
• gnomAD v4: 20-46016285-C-T
• MyVariant Identifiers: chr20:g.44644924C>T (hg19) ; chr20:g.46016285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46016285C>T , CM000682.2:g.46016285C>T	GRCh38
NC_000020.10:g.44644924C>T , CM000682.1:g.44644924C>T	GRCh37
NC_000020.9:g.44078331C>T	NCBI36
NG_011468.1:g.12378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.2041C>T (MMP9) MANE Select	ENSP00000361405.3:p.Arg681Cys
NM_004994.2:c.2041C>T (MMP9)	NP_004985.2:p.Arg681Cys
NR_147699.1:n.669-1497G>A (SLC12A5-AS1)
NM_004994.3:c.2041C>T (MMP9) MANE Select	NP_004985.2:p.Arg681Cys