Canonical Allele Identifier: CA8181163

Gene: ADAMTS18

Linked Data

• ClinVar Variation Id: 770636
• ClinVar RCV Id: RCV000949816
• dbSNP Id: rs140240513
• ExAC: 16:77369732 C / T
• gnomAD v2: 16-77369732-C-T
• gnomAD v3: 16-77335835-C-T
• gnomAD v4: 16-77335835-C-T
• MyVariant Identifiers: chr16:g.77369732C>T (hg19) ; chr16:g.77335835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335835C>T , CM000678.2:g.77335835C>T	GRCh38
NC_000016.9:g.77369732C>T , CM000678.1:g.77369732C>T	GRCh37
NC_000016.8:g.75927233C>T	NCBI36
NG_031879.1:g.104280G>A
NG_031879.2:g.104280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.1780G>A MANE Select	ENSP00000282849.5:p.Ala594Thr
ENST00000282849.9:c.1780G>A	ENSP00000282849.5:p.Ala594Thr
NM_199355.2:c.1780G>A	NP_955387.1:p.Ala594Thr
XM_006721158.2:c.-136G>A	XP_006721221.1:n.-136G>A
XM_011522923.1:c.1264G>A	XP_011521225.1:p.Ala422Thr
XM_011522924.1:c.1264G>A	XP_011521226.1:p.Ala422Thr
NM_001326358.1:c.1264G>A	NP_001313287.1:p.Ala422Thr
NM_199355.3:c.1780G>A	NP_955387.1:p.Ala594Thr
XM_011522924.2:c.1264G>A	XP_011521226.1:p.Ala422Thr
XM_017022988.2:c.544G>A	XP_016878477.1:p.Ala182Thr
XM_017022989.1:c.544G>A	XP_016878478.1:p.Ala182Thr
NM_199355.4:c.1780G>A MANE Select	NP_955387.1:p.Ala594Thr
NM_001326358.2:c.1264G>A	NP_001313287.1:p.Ala422Thr