Canonical Allele Identifier: CA284419645

Gene: ADAMTS18

Linked Data

• ClinVar Variation Id: 1935830
• ClinVar RCV Id: RCV002657875
• dbSNP Id: rs1037760654
• MyVariant Identifiers: chr16:g.77323260C>T (hg19) ; chr16:g.77289363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77289363C>T , CM000678.2:g.77289363C>T	GRCh38
NC_000016.9:g.77323260C>T , CM000678.1:g.77323260C>T	GRCh37
NC_000016.8:g.75880761C>T	NCBI36
NG_031879.1:g.150752G>A
NG_031879.2:g.150752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.3451G>A MANE Select	ENSP00000282849.5:p.Val1151Ile
ENST00000282849.9:c.3451G>A	ENSP00000282849.5:p.Val1151Ile
NM_199355.2:c.3451G>A	NP_955387.1:p.Val1151Ile
XM_006721158.2:c.1363G>A	XP_006721221.1:p.Val455Ile
XM_011522923.1:c.2935G>A	XP_011521225.1:p.Val979Ile
XM_011522924.1:c.2722G>A	XP_011521226.1:p.Val908Ile
NM_001326358.1:c.2935G>A	NP_001313287.1:p.Val979Ile
NM_199355.3:c.3451G>A	NP_955387.1:p.Val1151Ile
XM_011522924.2:c.2722G>A	XP_011521226.1:p.Val908Ile
XM_017022988.2:c.2215G>A	XP_016878477.1:p.Val739Ile
XM_017022989.1:c.2215G>A	XP_016878478.1:p.Val739Ile
NM_199355.4:c.3451G>A MANE Select	NP_955387.1:p.Val1151Ile
NM_001326358.2:c.2935G>A	NP_001313287.1:p.Val979Ile