Canonical Allele Identifier: CA409213083

Gene: MMP9

Linked Data

• dbSNP Id: rs2084275307
• gnomAD v4: 20-46011036-T-C
• MyVariant Identifiers: chr20:g.44639675T>C (hg19) ; chr20:g.46011036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46011036T>C , CM000682.2:g.46011036T>C	GRCh38
NC_000020.10:g.44639675T>C , CM000682.1:g.44639675T>C	GRCh37
NC_000020.9:g.44073082T>C	NCBI36
NG_011468.1:g.7129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.635T>C MANE Select	ENSP00000361405.3:p.Leu212Pro
NM_004994.2:c.635T>C	NP_004985.2:p.Leu212Pro
NM_004994.3:c.635T>C MANE Select	NP_004985.2:p.Leu212Pro