Canonical Allele Identifier: CA9886873

Gene: MMP9 SLC12A5-AS1

Linked Data

• dbSNP Id: rs765967228
• ExAC: 20:44644878 G / C
• gnomAD v2: 20-44644878-G-C
• gnomAD v4: 20-46016239-G-C
• MyVariant Identifiers: chr20:g.44644878G>C (hg19) ; chr20:g.46016239G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46016239G>C , CM000682.2:g.46016239G>C	GRCh38
NC_000020.10:g.44644878G>C , CM000682.1:g.44644878G>C	GRCh37
NC_000020.9:g.44078285G>C	NCBI36
NG_011468.1:g.12332G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.2006-11G>C (MMP9) MANE Select	ENSP00000361405.3:n.2006-11G>C
NM_004994.2:c.2006-11G>C (MMP9)	NP_004985.2:n.2006-11G>C
NR_147699.1:n.669-1451C>G (SLC12A5-AS1)
NM_004994.3:c.2006-11G>C (MMP9) MANE Select	NP_004985.2:n.2006-11G>C