Canonical Allele Identifier: CA8181149

Gene: ADAMTS18

Linked Data

• ClinVar Variation Id: 1015435
• ClinVar RCV Id: RCV001314293 ; RCV002543641
• dbSNP Id: rs202020248
• ExAC: 16:77369683 T / C
• gnomAD v2: 16-77369683-T-C
• gnomAD v3: 16-77335786-T-C
• gnomAD v4: 16-77335786-T-C
• MyVariant Identifiers: chr16:g.77369683T>C (hg19) ; chr16:g.77335786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335786T>C , CM000678.2:g.77335786T>C	GRCh38
NC_000016.9:g.77369683T>C , CM000678.1:g.77369683T>C	GRCh37
NC_000016.8:g.75927184T>C	NCBI36
NG_031879.1:g.104329A>G
NG_031879.2:g.104329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.1829A>G MANE Select	ENSP00000282849.5:p.Lys610Arg
ENST00000282849.9:c.1829A>G	ENSP00000282849.5:p.Lys610Arg
NM_199355.2:c.1829A>G	NP_955387.1:p.Lys610Arg
XM_006721158.2:c.-87A>G	XP_006721221.1:n.-87A>G
XM_011522923.1:c.1313A>G	XP_011521225.1:p.Lys438Arg
XM_011522924.1:c.1313A>G	XP_011521226.1:p.Lys438Arg
NM_001326358.1:c.1313A>G	NP_001313287.1:p.Lys438Arg
NM_199355.3:c.1829A>G	NP_955387.1:p.Lys610Arg
XM_011522924.2:c.1313A>G	XP_011521226.1:p.Lys438Arg
XM_017022988.2:c.593A>G	XP_016878477.1:p.Lys198Arg
XM_017022989.1:c.593A>G	XP_016878478.1:p.Lys198Arg
NM_199355.4:c.1829A>G MANE Select	NP_955387.1:p.Lys610Arg
NM_001326358.2:c.1313A>G	NP_001313287.1:p.Lys438Arg