Canonical Allele Identifier: CA9886869

Gene: MMP9 SLC12A5-AS1

Linked Data

• dbSNP Id: rs761900034
• ExAC: 20:44644863 C / T
• gnomAD v2: 20-44644863-C-T
• gnomAD v3: 20-46016224-C-T
• gnomAD v4: 20-46016224-C-T
• MyVariant Identifiers: chr20:g.44644863C>T (hg19) ; chr20:g.46016224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46016224C>T , CM000682.2:g.46016224C>T	GRCh38
NC_000020.10:g.44644863C>T , CM000682.1:g.44644863C>T	GRCh37
NC_000020.9:g.44078270C>T	NCBI36
NG_011468.1:g.12317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.2006-26C>T (MMP9) MANE Select	ENSP00000361405.3:n.2006-26C>T
NM_004994.2:c.2006-26C>T (MMP9)	NP_004985.2:n.2006-26C>T
NR_147699.1:n.669-1436G>A (SLC12A5-AS1)
NM_004994.3:c.2006-26C>T (MMP9) MANE Select	NP_004985.2:n.2006-26C>T