Canonical Allele Identifier: CA8180644
Community Standard Title: NM_199355.4(ADAMTS18):c.3007-1G>C
Gene: ADAMTS18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.77293259C>G , CM000678.2:g.77293259C>G GRCh38
NC_000016.9:g.77327156C>G , CM000678.1:g.77327156C>G GRCh37
NC_000016.8:g.75884657C>G NCBI36
NG_031879.1:g.146856G>C
NG_031879.2:g.146856G>C

Transcript Alleles

HGVS Amino-acid Change
NM_199355.4:c.3007-1G>C MANE Select NP_955387.1:n.3007-1G>C
ENST00000282849.10:c.3007-1G>C MANE Select ENSP00000282849.5:n.3007-1G>C
NM_001326358.1:c.2491-1G>C NP_001313287.1:n.2491-1G>C
NM_001326358.2:c.2491-1G>C NP_001313287.1:n.2491-1G>C
NM_199355.2:c.3007-1G>C NP_955387.1:n.3007-1G>C
NM_199355.3:c.3007-1G>C NP_955387.1:n.3007-1G>C
ENST00000282849.9:c.3007-1G>C ENSP00000282849.5:n.3007-1G>C
XM_006721158.2:c.919-1G>C XP_006721221.1:n.919-1G>C
XM_011522923.1:c.2491-1G>C XP_011521225.1:n.2491-1G>C
XM_011522924.1:c.2491-1G>C XP_011521226.1:n.2491-1G>C
XM_011522924.2:c.2491-1G>C XP_011521226.1:n.2491-1G>C
XM_017022988.2:c.1771-1G>C XP_016878477.1:n.1771-1G>C
XM_017022989.1:c.1771-1G>C XP_016878478.1:n.1771-1G>C