Canonical Allele Identifier: CA9159944

Gene: ADAMTS10

Linked Data

• ClinVar Variation Id: 1550112
• ClinVar RCV Id: RCV002175259
• dbSNP Id: rs782201031
• ExAC: 19:8645789 G / A
• gnomAD v2: 19-8645789-G-A
• gnomAD v4: 19-8580905-G-A
• MyVariant Identifiers: chr19:g.8645789G>A (hg19) ; chr19:g.8580905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580905G>A , CM000681.2:g.8580905G>A	GRCh38
NC_000019.9:g.8645789G>A , CM000681.1:g.8645789G>A	GRCh37
NC_000019.8:g.8551789G>A	NCBI36
NG_011840.2:g.34798C>T
NG_052844.1:g.1543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3300C>T MANE Select	ENSP00000471851.1:p.Cys1100=
ENST00000270328.8:c.3300C>T	ENSP00000270328.4:p.Cys1100=
ENST00000593913.5:c.*2177C>T	ENSP00000469901.1:n.*2177C>T
ENST00000595838.5:c.1761C>T	ENSP00000470501.1:p.Cys587=
ENST00000597188.5:c.3300C>T	ENSP00000471851.1:p.Cys1100=
NM_001282352.1:c.1761C>T	NP_001269281.1:p.Cys587=
NM_030957.3:c.3300C>T	NP_112219.3:p.Cys1100=
XM_006722917.2:c.2343C>T	XP_006722980.1:p.Cys781=
XM_011528331.1:c.3447C>T	XP_011526633.1:p.Cys1149=
XM_011528332.1:c.3447C>T	XP_011526634.1:p.Cys1149=
XM_011528333.1:c.3447C>T	XP_011526635.1:p.Cys1149=
XM_011528334.1:c.3123C>T	XP_011526636.1:p.Cys1041=
XM_011528335.1:c.2016C>T	XP_011526637.1:p.Cys672=
XM_011528336.1:c.2010C>T	XP_011526638.1:p.Cys670=
XM_006722917.3:c.2343C>T	XP_006722980.1:p.Cys781=
XM_017027338.2:c.3300C>T	XP_016882827.1:p.Cys1100=
XM_017027339.1:c.1869C>T	XP_016882828.1:p.Cys623=
XM_017027340.1:c.1863C>T	XP_016882829.1:p.Cys621=
NM_030957.4:c.3300C>T MANE Select	NP_112219.3:p.Cys1100=
NM_001282352.2:c.1761C>T	NP_001269281.1:p.Cys587=