Canonical Allele Identifier: CA9886847

Gene: MMP9 SLC12A5-AS1

Linked Data

• ClinVar Variation Id: 338558
• ClinVar RCV Id: RCV000384681 ; RCV000733684
• dbSNP Id: rs201280938
• ExAC: 20:44642903 C / A
• gnomAD v2: 20-44642903-C-A
• gnomAD v3: 20-46014264-C-A
• gnomAD v4: 20-46014264-C-A
• MyVariant Identifiers: chr20:g.44642903C>A (hg19) ; chr20:g.46014264C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46014264C>A , CM000682.2:g.46014264C>A	GRCh38
NC_000020.10:g.44642903C>A , CM000682.1:g.44642903C>A	GRCh37
NC_000020.9:g.44076310C>A	NCBI36
NG_011468.1:g.10357C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.1891C>A (MMP9) MANE Select	ENSP00000361405.3:p.Arg631Ser
NM_004994.2:c.1891C>A (MMP9)	NP_004985.2:p.Arg631Ser
NR_147699.1:n.1193G>T (SLC12A5-AS1)
NM_004994.3:c.1891C>A (MMP9) MANE Select	NP_004985.2:p.Arg631Ser