Canonical Allele Identifier: CA9159949

Gene: ADAMTS10

Linked Data

• ClinVar Variation Id: 2981194
• ClinVar RCV Id: RCV003832336
• dbSNP Id: rs781940900
• ExAC: 19:8645819 G / C
• gnomAD v2: 19-8645819-G-C
• gnomAD v3: 19-8580935-G-C
• gnomAD v4: 19-8580935-G-C
• MyVariant Identifiers: chr19:g.8645819G>C (hg19) ; chr19:g.8580935G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580935G>C , CM000681.2:g.8580935G>C	GRCh38
NC_000019.9:g.8645819G>C , CM000681.1:g.8645819G>C	GRCh37
NC_000019.8:g.8551819G>C	NCBI36
NG_011840.2:g.34768C>G
NG_052844.1:g.1513C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3270C>G MANE Select	ENSP00000471851.1:p.Ala1090=
ENST00000270328.8:c.3270C>G	ENSP00000270328.4:p.Ala1090=
ENST00000593913.5:c.*2147C>G	ENSP00000469901.1:n.*2147C>G
ENST00000595838.5:c.1731C>G	ENSP00000470501.1:p.Ala577=
ENST00000597188.5:c.3270C>G	ENSP00000471851.1:p.Ala1090=
NM_001282352.1:c.1731C>G	NP_001269281.1:p.Ala577=
NM_030957.3:c.3270C>G	NP_112219.3:p.Ala1090=
XM_006722917.2:c.2313C>G	XP_006722980.1:p.Ala771=
XM_011528331.1:c.3417C>G	XP_011526633.1:p.Ala1139=
XM_011528332.1:c.3417C>G	XP_011526634.1:p.Ala1139=
XM_011528333.1:c.3417C>G	XP_011526635.1:p.Ala1139=
XM_011528334.1:c.3093C>G	XP_011526636.1:p.Ala1031=
XM_011528335.1:c.1986C>G	XP_011526637.1:p.Ala662=
XM_011528336.1:c.1980C>G	XP_011526638.1:p.Ala660=
XM_006722917.3:c.2313C>G	XP_006722980.1:p.Ala771=
XM_017027338.2:c.3270C>G	XP_016882827.1:p.Ala1090=
XM_017027339.1:c.1839C>G	XP_016882828.1:p.Ala613=
XM_017027340.1:c.1833C>G	XP_016882829.1:p.Ala611=
NM_030957.4:c.3270C>G MANE Select	NP_112219.3:p.Ala1090=
NM_001282352.2:c.1731C>G	NP_001269281.1:p.Ala577=