Canonical Allele Identifier: CA8181152

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs776696821
• ExAC: 16:77369693 C / A
• gnomAD v2: 16-77369693-C-A
• gnomAD v4: 16-77335796-C-A
• MyVariant Identifiers: chr16:g.77369693C>A (hg19) ; chr16:g.77335796C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335796C>A , CM000678.2:g.77335796C>A	GRCh38
NC_000016.9:g.77369693C>A , CM000678.1:g.77369693C>A	GRCh37
NC_000016.8:g.75927194C>A	NCBI36
NG_031879.1:g.104319G>T
NG_031879.2:g.104319G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282849.10:c.1819G>T MANE Select	ENSP00000282849.5:p.Gly607Ter
ENST00000282849.9:c.1819G>T	ENSP00000282849.5:p.Gly607Ter
NM_199355.2:c.1819G>T	NP_955387.1:p.Gly607Ter
XM_006721158.2:c.-97G>T	XP_006721221.1:n.-97G>T
XM_011522923.1:c.1303G>T	XP_011521225.1:p.Gly435Ter
XM_011522924.1:c.1303G>T	XP_011521226.1:p.Gly435Ter
NM_001326358.1:c.1303G>T	NP_001313287.1:p.Gly435Ter
NM_199355.3:c.1819G>T	NP_955387.1:p.Gly607Ter
XM_011522924.2:c.1303G>T	XP_011521226.1:p.Gly435Ter
XM_017022988.2:c.583G>T	XP_016878477.1:p.Gly195Ter
XM_017022989.1:c.583G>T	XP_016878478.1:p.Gly195Ter
NM_199355.4:c.1819G>T MANE Select	NP_955387.1:p.Gly607Ter
NM_001326358.2:c.1303G>T	NP_001313287.1:p.Gly435Ter