Canonical Allele Identifier: CA9159941

Gene: ADAMTS10

Linked Data

• dbSNP Id: rs781800089
• ExAC: 19:8645779 A / T
• MyVariant Identifiers: chr19:g.8645779A>T (hg19) ; chr19:g.8580895A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580895A>T , CM000681.2:g.8580895A>T	GRCh38
NC_000019.9:g.8645779A>T , CM000681.1:g.8645779A>T	GRCh37
NC_000019.8:g.8551779A>T	NCBI36
NG_011840.2:g.34808T>A
NG_052844.1:g.1553T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3310T>A MANE Select	ENSP00000471851.1:p.Ter1104Lys
ENST00000270328.8:c.3310T>A	ENSP00000270328.4:p.Ter1104Lys
ENST00000593913.5:c.*2187T>A	ENSP00000469901.1:n.*2187T>A
ENST00000595838.5:c.1771T>A	ENSP00000470501.1:p.Ter591Lys
ENST00000597188.5:c.3310T>A	ENSP00000471851.1:p.Ter1104Lys
NM_001282352.1:c.1771T>A	NP_001269281.1:p.Ter591Lys
NM_030957.3:c.3310T>A	NP_112219.3:p.Ter1104Lys
XM_006722917.2:c.2353T>A	XP_006722980.1:p.Ter785Lys
XM_011528331.1:c.3457T>A	XP_011526633.1:p.Ter1153Lys
XM_011528332.1:c.3457T>A	XP_011526634.1:p.Ter1153Lys
XM_011528333.1:c.3457T>A	XP_011526635.1:p.Ter1153Lys
XM_011528334.1:c.3133T>A	XP_011526636.1:p.Ter1045Lys
XM_011528335.1:c.2026T>A	XP_011526637.1:p.Ter676Lys
XM_011528336.1:c.2020T>A	XP_011526638.1:p.Ter674Lys
XM_006722917.3:c.2353T>A	XP_006722980.1:p.Ter785Lys
XM_017027338.2:c.3310T>A	XP_016882827.1:p.Ter1104Lys
XM_017027339.1:c.1879T>A	XP_016882828.1:p.Ter627Lys
XM_017027340.1:c.1873T>A	XP_016882829.1:p.Ter625Lys
NM_030957.4:c.3310T>A MANE Select	NP_112219.3:p.Ter1104Lys
NM_001282352.2:c.1771T>A	NP_001269281.1:p.Ter591Lys