Canonical Allele Identifier: CA8180671

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs773449203
• ExAC: 16:77328821 T / C
• gnomAD v2: 16-77328821-T-C
• gnomAD v4: 16-77294924-T-C
• MyVariant Identifiers: chr16:g.77328821T>C (hg19) ; chr16:g.77294924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77294924T>C , CM000678.2:g.77294924T>C	GRCh38
NC_000016.9:g.77328821T>C , CM000678.1:g.77328821T>C	GRCh37
NC_000016.8:g.75886322T>C	NCBI36
NG_031879.1:g.145191A>G
NG_031879.2:g.145191A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282849.10:c.3005A>G MANE Select	ENSP00000282849.5:p.Gln1002Arg
ENST00000282849.9:c.3005A>G	ENSP00000282849.5:p.Gln1002Arg
NM_199355.2:c.3005A>G	NP_955387.1:p.Gln1002Arg
XM_006721158.2:c.917A>G	XP_006721221.1:p.Gln306Arg
XM_011522923.1:c.2489A>G	XP_011521225.1:p.Gln830Arg
XM_011522924.1:c.2489A>G	XP_011521226.1:p.Gln830Arg
NM_001326358.1:c.2489A>G	NP_001313287.1:p.Gln830Arg
NM_199355.3:c.3005A>G	NP_955387.1:p.Gln1002Arg
XM_011522924.2:c.2489A>G	XP_011521226.1:p.Gln830Arg
XM_017022988.2:c.1769A>G	XP_016878477.1:p.Gln590Arg
XM_017022989.1:c.1769A>G	XP_016878478.1:p.Gln590Arg
NM_199355.4:c.3005A>G MANE Select	NP_955387.1:p.Gln1002Arg
NM_001326358.2:c.2489A>G	NP_001313287.1:p.Gln830Arg