Canonical Allele Identifier: CA8180759
Community Standard Title: NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu)
Gene: ADAMTS18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.77297338T>C , CM000678.2:g.77297338T>C GRCh38
NC_000016.9:g.77331235T>C , CM000678.1:g.77331235T>C GRCh37
NC_000016.8:g.75888736T>C NCBI36
NG_031879.1:g.142777A>G
NG_031879.2:g.142777A>G

Transcript Alleles

HGVS Amino-acid Change
NM_199355.4:c.2752A>G MANE Select NP_955387.1:p.Lys918Glu
ENST00000282849.10:c.2752A>G MANE Select ENSP00000282849.5:p.Lys918Glu
NM_001326358.1:c.2236A>G NP_001313287.1:p.Lys746Glu
NM_001326358.2:c.2236A>G NP_001313287.1:p.Lys746Glu
NM_199355.2:c.2752A>G NP_955387.1:p.Lys918Glu
NM_199355.3:c.2752A>G NP_955387.1:p.Lys918Glu
ENST00000282849.9:c.2752A>G ENSP00000282849.5:p.Lys918Glu
XM_006721158.2:c.664A>G XP_006721221.1:p.Lys222Glu
XM_011522923.1:c.2236A>G XP_011521225.1:p.Lys746Glu
XM_011522924.1:c.2236A>G XP_011521226.1:p.Lys746Glu
XM_011522924.2:c.2236A>G XP_011521226.1:p.Lys746Glu
XM_017022988.2:c.1516A>G XP_016878477.1:p.Lys506Glu
XM_017022989.1:c.1516A>G XP_016878478.1:p.Lys506Glu