Canonical Allele Identifier: CA9159948

Gene: ADAMTS10

Linked Data

• ClinVar Variation Id: 1392003
• ClinVar RCV Id: RCV001911135
• dbSNP Id: rs782412095
• ExAC: 19:8645812 G / T
• gnomAD v2: 19-8645812-G-T
• gnomAD v3: 19-8580928-G-T
• gnomAD v4: 19-8580928-G-T
• MyVariant Identifiers: chr19:g.8645812G>T (hg19) ; chr19:g.8580928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580928G>T , CM000681.2:g.8580928G>T	GRCh38
NC_000019.9:g.8645812G>T , CM000681.1:g.8645812G>T	GRCh37
NC_000019.8:g.8551812G>T	NCBI36
NG_011840.2:g.34775C>A
NG_052844.1:g.1520C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3277C>A MANE Select	ENSP00000471851.1:p.Arg1093Ser
ENST00000270328.8:c.3277C>A	ENSP00000270328.4:p.Arg1093Ser
ENST00000593913.5:c.*2154C>A	ENSP00000469901.1:n.*2154C>A
ENST00000595838.5:c.1738C>A	ENSP00000470501.1:p.Arg580Ser
ENST00000597188.5:c.3277C>A	ENSP00000471851.1:p.Arg1093Ser
NM_001282352.1:c.1738C>A	NP_001269281.1:p.Arg580Ser
NM_030957.3:c.3277C>A	NP_112219.3:p.Arg1093Ser
XM_006722917.2:c.2320C>A	XP_006722980.1:p.Arg774Ser
XM_011528331.1:c.3424C>A	XP_011526633.1:p.Arg1142Ser
XM_011528332.1:c.3424C>A	XP_011526634.1:p.Arg1142Ser
XM_011528333.1:c.3424C>A	XP_011526635.1:p.Arg1142Ser
XM_011528334.1:c.3100C>A	XP_011526636.1:p.Arg1034Ser
XM_011528335.1:c.1993C>A	XP_011526637.1:p.Arg665Ser
XM_011528336.1:c.1987C>A	XP_011526638.1:p.Arg663Ser
XM_006722917.3:c.2320C>A	XP_006722980.1:p.Arg774Ser
XM_017027338.2:c.3277C>A	XP_016882827.1:p.Arg1093Ser
XM_017027339.1:c.1846C>A	XP_016882828.1:p.Arg616Ser
XM_017027340.1:c.1840C>A	XP_016882829.1:p.Arg614Ser
NM_030957.4:c.3277C>A MANE Select	NP_112219.3:p.Arg1093Ser
NM_001282352.2:c.1738C>A	NP_001269281.1:p.Arg580Ser