Canonical Allele Identifier: CA9886813

Gene: MMP9 SLC12A5-AS1

Linked Data

• ClinVar Variation Id: 282093
• ClinVar RCV Id: RCV000381191 ; RCV000990307 ; RCV001519403
• dbSNP Id: rs2250889
• ExAC: 20:44642406 G / C
• gnomAD v2: 20-44642406-G-C
• gnomAD v3: 20-46013767-G-C
• gnomAD v4: 20-46013767-G-C
• MyVariant Identifiers: chr20:g.44642406G>C (hg19) ; chr20:g.46013767G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46013767G>C , CM000682.2:g.46013767G>C	GRCh38
NC_000020.10:g.44642406G>C , CM000682.1:g.44642406G>C	GRCh37
NC_000020.9:g.44075813G>C	NCBI36
NG_011468.1:g.9860G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.1721G>C (MMP9) MANE Select	ENSP00000361405.3:p.Arg574Pro
NM_004994.2:c.1721G>C (MMP9)	NP_004985.2:p.Arg574Pro
NR_147699.1:n.1690C>G (SLC12A5-AS1)
NM_004994.3:c.1721G>C (MMP9) MANE Select	NP_004985.2:p.Arg574Pro