Canonical Allele Identifier: CA403747937

Gene: ADAMTS10

Linked Data

• gnomAD v4: 19-8580966-A-C
• MyVariant Identifiers: chr19:g.8645850A>C (hg19) ; chr19:g.8580966A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580966A>C , CM000681.2:g.8580966A>C	GRCh38
NC_000019.9:g.8645850A>C , CM000681.1:g.8645850A>C	GRCh37
NC_000019.8:g.8551850A>C	NCBI36
NG_011840.2:g.34737T>G
NG_052844.1:g.1482T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3239T>G MANE Select	ENSP00000471851.1:p.Leu1080Arg
ENST00000270328.8:c.3239T>G	ENSP00000270328.4:p.Leu1080Arg
ENST00000593913.5:c.*2116T>G	ENSP00000469901.1:n.*2116T>G
ENST00000595838.5:c.1700T>G	ENSP00000470501.1:p.Leu567Arg
ENST00000597188.5:c.3239T>G	ENSP00000471851.1:p.Leu1080Arg
NM_001282352.1:c.1700T>G	NP_001269281.1:p.Leu567Arg
NM_030957.3:c.3239T>G	NP_112219.3:p.Leu1080Arg
XM_006722917.2:c.2282T>G	XP_006722980.1:p.Leu761Arg
XM_011528331.1:c.3386T>G	XP_011526633.1:p.Leu1129Arg
XM_011528332.1:c.3386T>G	XP_011526634.1:p.Leu1129Arg
XM_011528333.1:c.3386T>G	XP_011526635.1:p.Leu1129Arg
XM_011528334.1:c.3062T>G	XP_011526636.1:p.Leu1021Arg
XM_011528335.1:c.1955T>G	XP_011526637.1:p.Leu652Arg
XM_011528336.1:c.1949T>G	XP_011526638.1:p.Leu650Arg
XM_006722917.3:c.2282T>G	XP_006722980.1:p.Leu761Arg
XM_017027338.2:c.3239T>G	XP_016882827.1:p.Leu1080Arg
XM_017027339.1:c.1808T>G	XP_016882828.1:p.Leu603Arg
XM_017027340.1:c.1802T>G	XP_016882829.1:p.Leu601Arg
NM_030957.4:c.3239T>G MANE Select	NP_112219.3:p.Leu1080Arg
NM_001282352.2:c.1700T>G	NP_001269281.1:p.Leu567Arg