Canonical Allele Identifier: CA403747930

Gene: ADAMTS10

Linked Data

• ClinVar Variation Id: 1408887
• ClinVar RCV Id: RCV001909615
• dbSNP Id: rs2042337704
• MyVariant Identifiers: chr19:g.8645845G>C (hg19) ; chr19:g.8580961G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580961G>C , CM000681.2:g.8580961G>C	GRCh38
NC_000019.9:g.8645845G>C , CM000681.1:g.8645845G>C	GRCh37
NC_000019.8:g.8551845G>C	NCBI36
NG_011840.2:g.34742C>G
NG_052844.1:g.1487C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3244C>G MANE Select	ENSP00000471851.1:p.Leu1082Val
ENST00000270328.8:c.3244C>G	ENSP00000270328.4:p.Leu1082Val
ENST00000593913.5:c.*2121C>G	ENSP00000469901.1:n.*2121C>G
ENST00000595838.5:c.1705C>G	ENSP00000470501.1:p.Leu569Val
ENST00000597188.5:c.3244C>G	ENSP00000471851.1:p.Leu1082Val
NM_001282352.1:c.1705C>G	NP_001269281.1:p.Leu569Val
NM_030957.3:c.3244C>G	NP_112219.3:p.Leu1082Val
XM_006722917.2:c.2287C>G	XP_006722980.1:p.Leu763Val
XM_011528331.1:c.3391C>G	XP_011526633.1:p.Leu1131Val
XM_011528332.1:c.3391C>G	XP_011526634.1:p.Leu1131Val
XM_011528333.1:c.3391C>G	XP_011526635.1:p.Leu1131Val
XM_011528334.1:c.3067C>G	XP_011526636.1:p.Leu1023Val
XM_011528335.1:c.1960C>G	XP_011526637.1:p.Leu654Val
XM_011528336.1:c.1954C>G	XP_011526638.1:p.Leu652Val
XM_006722917.3:c.2287C>G	XP_006722980.1:p.Leu763Val
XM_017027338.2:c.3244C>G	XP_016882827.1:p.Leu1082Val
XM_017027339.1:c.1813C>G	XP_016882828.1:p.Leu605Val
XM_017027340.1:c.1807C>G	XP_016882829.1:p.Leu603Val
NM_030957.4:c.3244C>G MANE Select	NP_112219.3:p.Leu1082Val
NM_001282352.2:c.1705C>G	NP_001269281.1:p.Leu569Val