Canonical Allele Identifier: CA382236809
Gene: MMP12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102867333T>G , CM000673.2:g.102867333T>G GRCh38
NC_000011.9:g.102738064T>G , CM000673.1:g.102738064T>G GRCh37
NC_000011.8:g.102243274T>G NCBI36
NG_032936.1:g.12702A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000571244.3:c.848A>C MANE Select ENSP00000458585.1:p.Asp283Ala
ENST00000571244.2:c.848A>C ENSP00000458585.1:p.Asp283Ala
NM_002426.4:c.848A>C NP_002417.2:p.Asp283Ala
NM_002426.5:c.848A>C NP_002417.2:p.Asp283Ala
NM_002426.6:c.848A>C MANE Select NP_002417.2:p.Asp283Ala