Canonical Allele Identifier: CA8181161

Gene: ADAMTS18

Linked Data

• ClinVar Variation Id: 1053441
• ClinVar RCV Id: RCV001361786
• dbSNP Id: rs755385795
• ExAC: 16:77369725 G / A
• gnomAD v2: 16-77369725-G-A
• gnomAD v3: 16-77335828-G-A
• gnomAD v4: 16-77335828-G-A
• MyVariant Identifiers: chr16:g.77369725G>A (hg19) ; chr16:g.77335828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335828G>A , CM000678.2:g.77335828G>A	GRCh38
NC_000016.9:g.77369725G>A , CM000678.1:g.77369725G>A	GRCh37
NC_000016.8:g.75927226G>A	NCBI36
NG_031879.1:g.104287C>T
NG_031879.2:g.104287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.1787C>T MANE Select	ENSP00000282849.5:p.Ser596Leu
ENST00000282849.9:c.1787C>T	ENSP00000282849.5:p.Ser596Leu
NM_199355.2:c.1787C>T	NP_955387.1:p.Ser596Leu
XM_006721158.2:c.-129C>T	XP_006721221.1:n.-129C>T
XM_011522923.1:c.1271C>T	XP_011521225.1:p.Ser424Leu
XM_011522924.1:c.1271C>T	XP_011521226.1:p.Ser424Leu
NM_001326358.1:c.1271C>T	NP_001313287.1:p.Ser424Leu
NM_199355.3:c.1787C>T	NP_955387.1:p.Ser596Leu
XM_011522924.2:c.1271C>T	XP_011521226.1:p.Ser424Leu
XM_017022988.2:c.551C>T	XP_016878477.1:p.Ser184Leu
XM_017022989.1:c.551C>T	XP_016878478.1:p.Ser184Leu
NM_199355.4:c.1787C>T MANE Select	NP_955387.1:p.Ser596Leu
NM_001326358.2:c.1271C>T	NP_001313287.1:p.Ser424Leu