Canonical Allele Identifier: CA382228618

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102836175G>C , CM000673.2:g.102836175G>C GRCh38
NC_000011.9:g.102706906G>C , CM000673.1:g.102706906G>C GRCh37
NC_000011.8:g.102212116G>C NCBI36
NG_012100.1:g.12437C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299855.10:c.1385C>G (MMP3) MANE Select ENSP00000299855.5:p.Ala462Gly
ENST00000299855.9:c.1385C>G (MMP3) ENSP00000299855.5:p.Ala462Gly
ENST00000525739.6:n.2314-263G>C (WTAPP1)
NM_002422.3:c.1385C>G (MMP3) NP_002413.1:p.Ala462Gly
NM_002422.4:c.1385C>G (MMP3) NP_002413.1:p.Ala462Gly
NR_038390.1:n.2314-263G>C (WTAPP1)
NM_002422.5:c.1385C>G (MMP3) MANE Select NP_002413.1:p.Ala462Gly