Canonical Allele Identifier: CA396829389

Gene: ADAMTS18

Linked Data

• ClinVar Variation Id: 939891
• ClinVar RCV Id: RCV001209368
• dbSNP Id: rs2055198504
• MyVariant Identifiers: chr16:g.77317894A>C (hg19) ; chr16:g.77283997A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77283997A>C , CM000678.2:g.77283997A>C	GRCh38
NC_000016.9:g.77317894A>C , CM000678.1:g.77317894A>C	GRCh37
NC_000016.8:g.75875395A>C	NCBI36
NG_031879.1:g.156118T>G
NG_031879.2:g.156118T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.3625T>G MANE Select	ENSP00000282849.5:p.Tyr1209Asp
ENST00000282849.9:c.3625T>G	ENSP00000282849.5:p.Tyr1209Asp
ENST00000562332.1:c.96+5267T>G
NM_199355.2:c.3625T>G	NP_955387.1:p.Tyr1209Asp
XM_006721158.2:c.1537T>G	XP_006721221.1:p.Tyr513Asp
XM_011522923.1:c.3109T>G	XP_011521225.1:p.Tyr1037Asp
XM_011522924.1:c.2896T>G	XP_011521226.1:p.Tyr966Asp
NM_001326358.1:c.3109T>G	NP_001313287.1:p.Tyr1037Asp
NM_199355.3:c.3625T>G	NP_955387.1:p.Tyr1209Asp
XM_011522924.2:c.2896T>G	XP_011521226.1:p.Tyr966Asp
XM_017022988.2:c.2389T>G	XP_016878477.1:p.Tyr797Asp
XM_017022989.1:c.2389T>G	XP_016878478.1:p.Tyr797Asp
NM_199355.4:c.3625T>G MANE Select	NP_955387.1:p.Tyr1209Asp
NM_001326358.2:c.3109T>G	NP_001313287.1:p.Tyr1037Asp