Canonical Allele Identifier: CA9886838

Gene: MMP9 SLC12A5-AS1

Linked Data

• ClinVar Variation Id: 285363
• ClinVar RCV Id: RCV000325354 ; RCV000408387 ; RCV001520777
• dbSNP Id: rs13969
• ExAC: 20:44642833 A / C
• gnomAD v2: 20-44642833-A-C
• gnomAD v3: 20-46014194-A-C
• gnomAD v4: 20-46014194-A-C
• MyVariant Identifiers: chr20:g.44642833A>C (hg19) ; chr20:g.46014194A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46014194A>C , CM000682.2:g.46014194A>C	GRCh38
NC_000020.10:g.44642833A>C , CM000682.1:g.44642833A>C	GRCh37
NC_000020.9:g.44076240A>C	NCBI36
NG_011468.1:g.10287A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.1821A>C (MMP9) MANE Select	ENSP00000361405.3:p.Gly607=
NM_004994.2:c.1821A>C (MMP9)	NP_004985.2:p.Gly607=
NR_147699.1:n.1263T>G (SLC12A5-AS1)
NM_004994.3:c.1821A>C (MMP9) MANE Select	NP_004985.2:p.Gly607=