Canonical Allele Identifier: CA396833279

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs1195694707
• gnomAD v4: 16-77294922-C-A
• MyVariant Identifiers: chr16:g.77328819C>A (hg19) ; chr16:g.77294922C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77294922C>A , CM000678.2:g.77294922C>A	GRCh38
NC_000016.9:g.77328819C>A , CM000678.1:g.77328819C>A	GRCh37
NC_000016.8:g.75886320C>A	NCBI36
NG_031879.1:g.145193G>T
NG_031879.2:g.145193G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.3006+1G>T MANE Select	ENSP00000282849.5:n.3006+1G>T
ENST00000282849.9:c.3006+1G>T	ENSP00000282849.5:n.3006+1G>T
NM_199355.2:c.3006+1G>T	NP_955387.1:n.3006+1G>T
XM_006721158.2:c.918+1G>T	XP_006721221.1:n.918+1G>T
XM_011522923.1:c.2490+1G>T	XP_011521225.1:n.2490+1G>T
XM_011522924.1:c.2490+1G>T	XP_011521226.1:n.2490+1G>T
NM_001326358.1:c.2490+1G>T	NP_001313287.1:n.2490+1G>T
NM_199355.3:c.3006+1G>T	NP_955387.1:n.3006+1G>T
XM_011522924.2:c.2490+1G>T	XP_011521226.1:n.2490+1G>T
XM_017022988.2:c.1770+1G>T	XP_016878477.1:n.1770+1G>T
XM_017022989.1:c.1770+1G>T	XP_016878478.1:n.1770+1G>T
NM_199355.4:c.3006+1G>T MANE Select	NP_955387.1:n.3006+1G>T
NM_001326358.2:c.2490+1G>T	NP_001313287.1:n.2490+1G>T