Canonical Allele Identifier: CA8180601

Gene: ADAMTS18

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77293108G>A , CM000678.2:g.77293108G>A	GRCh38
NC_000016.9:g.77327005G>A , CM000678.1:g.77327005G>A	GRCh37
NC_000016.8:g.75884506G>A	NCBI36
NG_031879.1:g.147007C>T
NG_031879.2:g.147007C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199355.4:c.3157C>T MANE Select	NP_955387.1:p.Arg1053Trp
ENST00000282849.10:c.3157C>T MANE Select	ENSP00000282849.5:p.Arg1053Trp
NM_001326358.1:c.2641C>T	NP_001313287.1:p.Arg881Trp
NM_001326358.2:c.2641C>T	NP_001313287.1:p.Arg881Trp
NM_199355.2:c.3157C>T	NP_955387.1:p.Arg1053Trp
NM_199355.3:c.3157C>T	NP_955387.1:p.Arg1053Trp
ENST00000282849.9:c.3157C>T	ENSP00000282849.5:p.Arg1053Trp
XM_006721158.2:c.1069C>T	XP_006721221.1:p.Arg357Trp
XM_011522923.1:c.2641C>T	XP_011521225.1:p.Arg881Trp
XM_011522924.1:c.2641C>T	XP_011521226.1:p.Arg881Trp
XM_011522924.2:c.2641C>T	XP_011521226.1:p.Arg881Trp
XM_017022988.2:c.1921C>T	XP_016878477.1:p.Arg641Trp
XM_017022989.1:c.1921C>T	XP_016878478.1:p.Arg641Trp