Canonical Allele Identifier: CA9886437

Gene: MMP9

Linked Data

• ClinVar Variation Id: 3169824
• ClinVar RCV Id: RCV004458182
• dbSNP Id: rs201932479
• ExAC: 20:44639588 G / C
• gnomAD v2: 20-44639588-G-C
• gnomAD v3: 20-46010949-G-C
• gnomAD v4: 20-46010949-G-C
• MyVariant Identifiers: chr20:g.44639588G>C (hg19) ; chr20:g.46010949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46010949G>C , CM000682.2:g.46010949G>C	GRCh38
NC_000020.10:g.44639588G>C , CM000682.1:g.44639588G>C	GRCh37
NC_000020.9:g.44072995G>C	NCBI36
NG_011468.1:g.7042G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.548G>C MANE Select	ENSP00000361405.3:p.Gly183Ala
NM_004994.2:c.548G>C	NP_004985.2:p.Gly183Ala
NM_004994.3:c.548G>C MANE Select	NP_004985.2:p.Gly183Ala