Canonical Allele Identifier: CA396833286

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs1452781260
• gnomAD v2: 16-77328822-G-A
• gnomAD v4: 16-77294925-G-A
• COSMIC: COSM142245
• MyVariant Identifiers: chr16:g.77328822G>A (hg19) ; chr16:g.77294925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77294925G>A , CM000678.2:g.77294925G>A	GRCh38
NC_000016.9:g.77328822G>A , CM000678.1:g.77328822G>A	GRCh37
NC_000016.8:g.75886323G>A	NCBI36
NG_031879.1:g.145190C>T
NG_031879.2:g.145190C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282849.10:c.3004C>T MANE Select	ENSP00000282849.5:p.Gln1002Ter
ENST00000282849.9:c.3004C>T	ENSP00000282849.5:p.Gln1002Ter
NM_199355.2:c.3004C>T	NP_955387.1:p.Gln1002Ter
XM_006721158.2:c.916C>T	XP_006721221.1:p.Gln306Ter
XM_011522923.1:c.2488C>T	XP_011521225.1:p.Gln830Ter
XM_011522924.1:c.2488C>T	XP_011521226.1:p.Gln830Ter
NM_001326358.1:c.2488C>T	NP_001313287.1:p.Gln830Ter
NM_199355.3:c.3004C>T	NP_955387.1:p.Gln1002Ter
XM_011522924.2:c.2488C>T	XP_011521226.1:p.Gln830Ter
XM_017022988.2:c.1768C>T	XP_016878477.1:p.Gln590Ter
XM_017022989.1:c.1768C>T	XP_016878478.1:p.Gln590Ter
NM_199355.4:c.3004C>T MANE Select	NP_955387.1:p.Gln1002Ter
NM_001326358.2:c.2488C>T	NP_001313287.1:p.Gln830Ter