Canonical Allele Identifier: CA9886548

Gene: MMP9

Linked Data

• dbSNP Id: rs760670157
• ExAC: 20:44640236 G / A
• gnomAD v2: 20-44640236-G-A
• MyVariant Identifiers: chr20:g.44640236G>A (hg19) ; chr20:g.46011597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46011597G>A , CM000682.2:g.46011597G>A	GRCh38
NC_000020.10:g.44640236G>A , CM000682.1:g.44640236G>A	GRCh37
NC_000020.9:g.44073643G>A	NCBI36
NG_011468.1:g.7690G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372330.3:c.847G>A MANE Select	ENSP00000361405.3:p.Ala283Thr
NM_004994.2:c.847G>A	NP_004985.2:p.Ala283Thr
NM_004994.3:c.847G>A MANE Select	NP_004985.2:p.Ala283Thr