Canonical Allele Identifier: CA9159951

Gene: ADAMTS10

Linked Data

• ClinVar Variation Id: 595050
• ClinVar RCV Id: RCV000730483
• dbSNP Id: rs200639529
• ExAC: 19:8645827 T / C
• gnomAD v2: 19-8645827-T-C
• gnomAD v3: 19-8580943-T-C
• gnomAD v4: 19-8580943-T-C
• MyVariant Identifiers: chr19:g.8645827T>C (hg19) ; chr19:g.8580943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580943T>C , CM000681.2:g.8580943T>C	GRCh38
NC_000019.9:g.8645827T>C , CM000681.1:g.8645827T>C	GRCh37
NC_000019.8:g.8551827T>C	NCBI36
NG_011840.2:g.34760A>G
NG_052844.1:g.1505A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3262A>G MANE Select	ENSP00000471851.1:p.Ser1088Gly
ENST00000270328.8:c.3262A>G	ENSP00000270328.4:p.Ser1088Gly
ENST00000593913.5:c.*2139A>G	ENSP00000469901.1:n.*2139A>G
ENST00000595838.5:c.1723A>G	ENSP00000470501.1:p.Ser575Gly
ENST00000597188.5:c.3262A>G	ENSP00000471851.1:p.Ser1088Gly
NM_001282352.1:c.1723A>G	NP_001269281.1:p.Ser575Gly
NM_030957.3:c.3262A>G	NP_112219.3:p.Ser1088Gly
XM_006722917.2:c.2305A>G	XP_006722980.1:p.Ser769Gly
XM_011528331.1:c.3409A>G	XP_011526633.1:p.Ser1137Gly
XM_011528332.1:c.3409A>G	XP_011526634.1:p.Ser1137Gly
XM_011528333.1:c.3409A>G	XP_011526635.1:p.Ser1137Gly
XM_011528334.1:c.3085A>G	XP_011526636.1:p.Ser1029Gly
XM_011528335.1:c.1978A>G	XP_011526637.1:p.Ser660Gly
XM_011528336.1:c.1972A>G	XP_011526638.1:p.Ser658Gly
XM_006722917.3:c.2305A>G	XP_006722980.1:p.Ser769Gly
XM_017027338.2:c.3262A>G	XP_016882827.1:p.Ser1088Gly
XM_017027339.1:c.1831A>G	XP_016882828.1:p.Ser611Gly
XM_017027340.1:c.1825A>G	XP_016882829.1:p.Ser609Gly
NM_030957.4:c.3262A>G MANE Select	NP_112219.3:p.Ser1088Gly
NM_001282352.2:c.1723A>G	NP_001269281.1:p.Ser575Gly