Canonical Allele Identifier: CA496590122

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs146655130
• gnomAD v2: 16-77369682-C-T
• gnomAD v3: 16-77335785-C-T
• gnomAD v4: 16-77335785-C-T
• MyVariant Identifiers: chr16:g.77369682C>T (hg19) ; chr16:g.77335785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335785C>T , CM000678.2:g.77335785C>T	GRCh38
NC_000016.9:g.77369682C>T , CM000678.1:g.77369682C>T	GRCh37
NC_000016.8:g.75927183C>T	NCBI36
NG_031879.1:g.104330G>A
NG_031879.2:g.104330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.1830G>A MANE Select	ENSP00000282849.5:p.Lys610=
ENST00000282849.9:c.1830G>A	ENSP00000282849.5:p.Lys610=
NM_199355.2:c.1830G>A	NP_955387.1:p.Lys610=
XM_006721158.2:c.-86G>A	XP_006721221.1:n.-86G>A
XM_011522923.1:c.1314G>A	XP_011521225.1:p.Lys438=
XM_011522924.1:c.1314G>A	XP_011521226.1:p.Lys438=
NM_001326358.1:c.1314G>A	NP_001313287.1:p.Lys438=
NM_199355.3:c.1830G>A	NP_955387.1:p.Lys610=
XM_011522924.2:c.1314G>A	XP_011521226.1:p.Lys438=
XM_017022988.2:c.594G>A	XP_016878477.1:p.Lys198=
XM_017022989.1:c.594G>A	XP_016878478.1:p.Lys198=
NM_199355.4:c.1830G>A MANE Select	NP_955387.1:p.Lys610=
NM_001326358.2:c.1314G>A	NP_001313287.1:p.Lys438=