Canonical Allele Identifier: CA396832407

Gene: ADAMTS18

Linked Data

• MyVariant Identifiers: chr16:g.77369782C>A (hg19) ; chr16:g.77335885C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335885C>A , CM000678.2:g.77335885C>A	GRCh38
NC_000016.9:g.77369782C>A , CM000678.1:g.77369782C>A	GRCh37
NC_000016.8:g.75927283C>A	NCBI36
NG_031879.1:g.104230G>T
NG_031879.2:g.104230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.1730G>T MANE Select	ENSP00000282849.5:p.Cys577Phe
ENST00000282849.9:c.1730G>T	ENSP00000282849.5:p.Cys577Phe
NM_199355.2:c.1730G>T	NP_955387.1:p.Cys577Phe
XM_011522923.1:c.1214G>T	XP_011521225.1:p.Cys405Phe
XM_011522924.1:c.1214G>T	XP_011521226.1:p.Cys405Phe
NM_001326358.1:c.1214G>T	NP_001313287.1:p.Cys405Phe
NM_199355.3:c.1730G>T	NP_955387.1:p.Cys577Phe
XM_011522924.2:c.1214G>T	XP_011521226.1:p.Cys405Phe
XM_017022988.2:c.494G>T	XP_016878477.1:p.Cys165Phe
XM_017022989.1:c.494G>T	XP_016878478.1:p.Cys165Phe
NM_199355.4:c.1730G>T MANE Select	NP_955387.1:p.Cys577Phe
NM_001326358.2:c.1214G>T	NP_001313287.1:p.Cys405Phe