Canonical Allele Identifier: CA315636848
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46014472G>C , CM000682.2:g.46014472G>C GRCh38
NC_000020.10:g.44643111G>C , CM000682.1:g.44643111G>C GRCh37
NC_000020.9:g.44076518G>C NCBI36
NG_011468.1:g.10565G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2003G>C (MMP9) MANE Select ENSP00000361405.3:p.Arg668Pro
NM_004994.2:c.2003G>C (MMP9) NP_004985.2:p.Arg668Pro
NR_147699.1:n.985C>G (SLC12A5-AS1)
NM_004994.3:c.2003G>C (MMP9) MANE Select NP_004985.2:p.Arg668Pro