Canonical Allele Identifier: CA10653164

Gene: MMP9 SLC12A5-AS1

Linked Data

• ClinVar Variation Id: 338557
• ClinVar RCV Id: RCV000369730
• dbSNP Id: rs200866285
• gnomAD v2: 20-44642356-C-A
• gnomAD v4: 20-46013717-C-A
• MyVariant Identifiers: chr20:g.44642356C>A (hg19) ; chr20:g.46013717C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46013717C>A , CM000682.2:g.46013717C>A	GRCh38
NC_000020.10:g.44642356C>A , CM000682.1:g.44642356C>A	GRCh37
NC_000020.9:g.44075763C>A	NCBI36
NG_011468.1:g.9810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.1671C>A (MMP9) MANE Select	ENSP00000361405.3:p.Ala557=
NM_004994.2:c.1671C>A (MMP9)	NP_004985.2:p.Ala557=
NR_147699.1:n.1740G>T (SLC12A5-AS1)
NM_004994.3:c.1671C>A (MMP9) MANE Select	NP_004985.2:p.Ala557=