Canonical Allele Identifier: CA623592415

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs1283730140
• gnomAD v2: 16-77430279-G-T
• gnomAD v3: 16-77396382-G-T
• gnomAD v4: 16-77396382-G-T
• MyVariant Identifiers: chr16:g.77430279G>T (hg19) ; chr16:g.77396382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77396382G>T , CM000678.2:g.77396382G>T	GRCh38
NC_000016.9:g.77430279G>T , CM000678.1:g.77430279G>T	GRCh37
NC_000016.8:g.75987780G>T	NCBI36
NG_031879.1:g.43733C>A
NG_031879.2:g.43733C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.496-28659C>A MANE Select	ENSP00000282849.5:n.496-28659C>A
ENST00000282849.9:c.496-28659C>A	ENSP00000282849.5:n.496-28659C>A
ENST00000449265.2:c.496-28659C>A	ENSP00000392540.2:n.496-28659C>A
ENST00000562345.1:c.294-28713C>A
ENST00000564369.1:n.422-28659C>A
ENST00000567121.5:n.353-28659C>A
ENST00000567914.1:n.340-28659C>A
ENST00000569309.1:n.453-17403C>A
NM_199355.2:c.496-28659C>A	NP_955387.1:n.496-28659C>A
XM_011522923.1:c.-25-28659C>A	XP_011521225.1:n.-25-28659C>A
XM_011522924.1:c.-25-28659C>A	XP_011521226.1:n.-25-28659C>A
NM_001326358.1:c.-25-28659C>A	NP_001313287.1:n.-25-28659C>A
NM_199355.3:c.496-28659C>A	NP_955387.1:n.496-28659C>A
XM_011522924.2:c.-25-28659C>A	XP_011521226.1:n.-25-28659C>A
XM_017022988.2:c.-585-28659C>A	XP_016878477.1:n.-585-28659C>A
XM_017022989.1:c.-581-28659C>A	XP_016878478.1:n.-581-28659C>A
NM_199355.4:c.496-28659C>A MANE Select	NP_955387.1:n.496-28659C>A
NM_001326358.2:c.-25-28659C>A	NP_001313287.1:n.-25-28659C>A