Canonical Allele Identifier: CA396832427

Gene: ADAMTS18

Linked Data

• ClinVar Variation Id: 1061337
• ClinVar RCV Id: RCV001370900
• dbSNP Id: rs2144675412
• MyVariant Identifiers: chr16:g.77369785T>C (hg19) ; chr16:g.77335888T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335888T>C , CM000678.2:g.77335888T>C	GRCh38
NC_000016.9:g.77369785T>C , CM000678.1:g.77369785T>C	GRCh37
NC_000016.8:g.75927286T>C	NCBI36
NG_031879.1:g.104227A>G
NG_031879.2:g.104227A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282849.10:c.1727A>G MANE Select	ENSP00000282849.5:p.Gln576Arg
ENST00000282849.9:c.1727A>G	ENSP00000282849.5:p.Gln576Arg
NM_199355.2:c.1727A>G	NP_955387.1:p.Gln576Arg
XM_011522923.1:c.1211A>G	XP_011521225.1:p.Gln404Arg
XM_011522924.1:c.1211A>G	XP_011521226.1:p.Gln404Arg
NM_001326358.1:c.1211A>G	NP_001313287.1:p.Gln404Arg
NM_199355.3:c.1727A>G	NP_955387.1:p.Gln576Arg
XM_011522924.2:c.1211A>G	XP_011521226.1:p.Gln404Arg
XM_017022988.2:c.491A>G	XP_016878477.1:p.Gln164Arg
XM_017022989.1:c.491A>G	XP_016878478.1:p.Gln164Arg
NM_199355.4:c.1727A>G MANE Select	NP_955387.1:p.Gln576Arg
NM_001326358.2:c.1211A>G	NP_001313287.1:p.Gln404Arg