Canonical Allele Identifier: CA304996295

Gene: ADAMTS10

Linked Data

• ClinVar Variation Id: 893579
• ClinVar RCV Id: RCV001132074 ; RCV001548676
• dbSNP Id: rs79238375
• gnomAD v2: 19-8645606-C-T
• gnomAD v3: 19-8580722-C-T
• gnomAD v4: 19-8580722-C-T
• MyVariant Identifiers: chr19:g.8645606C>T (hg19) ; chr19:g.8580722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580722C>T , CM000681.2:g.8580722C>T	GRCh38
NC_000019.9:g.8645606C>T , CM000681.1:g.8645606C>T	GRCh37
NC_000019.8:g.8551606C>T	NCBI36
NG_011840.2:g.34981G>A
NG_052844.1:g.1726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.*171G>A MANE Select	ENSP00000471851.1:n.*171G>A
ENST00000270328.8:c.*171G>A	ENSP00000270328.4:n.*171G>A
ENST00000593913.5:c.*2360G>A	ENSP00000469901.1:n.*2360G>A
ENST00000595838.5:c.*171G>A	ENSP00000470501.1:n.*171G>A
NM_001282352.1:c.*171G>A	NP_001269281.1:n.*171G>A
NM_030957.3:c.*171G>A	NP_112219.3:n.*171G>A
XM_006722917.2:c.*171G>A	XP_006722980.1:n.*171G>A
XM_011528331.1:c.*171G>A	XP_011526633.1:n.*171G>A
XM_011528332.1:c.*171G>A	XP_011526634.1:n.*171G>A
XM_011528333.1:c.*171G>A	XP_011526635.1:n.*171G>A
XM_011528334.1:c.*171G>A	XP_011526636.1:n.*171G>A
XM_011528335.1:c.*171G>A	XP_011526637.1:n.*171G>A
XM_011528336.1:c.*171G>A	XP_011526638.1:n.*171G>A
XM_006722917.3:c.*171G>A	XP_006722980.1:n.*171G>A
XM_017027339.1:c.*171G>A	XP_016882828.1:n.*171G>A
XM_017027340.1:c.*171G>A	XP_016882829.1:n.*171G>A
NM_030957.4:c.*171G>A MANE Select	NP_112219.3:n.*171G>A
NM_001282352.2:c.*171G>A	NP_001269281.1:n.*171G>A