Canonical Allele Identifier: CA505262938
Gene: ADAMTS10 HGNC NCBI

Linked Data

dbSNP Id: rs1341680378
gnomAD v2: 19-8645801-G-A
gnomAD v3: 19-8580917-G-A
gnomAD v4: 19-8580917-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8580917G>A , CM000681.2:g.8580917G>A GRCh38
NC_000019.9:g.8645801G>A , CM000681.1:g.8645801G>A GRCh37
NC_000019.8:g.8551801G>A NCBI36
NG_011840.2:g.34786C>T
NG_052844.1:g.1531C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000597188.6:c.3288C>T MANE Select ENSP00000471851.1:p.Cys1096=
ENST00000270328.8:c.3288C>T ENSP00000270328.4:p.Cys1096=
ENST00000593913.5:c.*2165C>T ENSP00000469901.1:n.*2165C>T
ENST00000595838.5:c.1749C>T ENSP00000470501.1:p.Cys583=
ENST00000597188.5:c.3288C>T ENSP00000471851.1:p.Cys1096=
NM_001282352.1:c.1749C>T NP_001269281.1:p.Cys583=
NM_030957.3:c.3288C>T NP_112219.3:p.Cys1096=
XM_006722917.2:c.2331C>T XP_006722980.1:p.Cys777=
XM_011528331.1:c.3435C>T XP_011526633.1:p.Cys1145=
XM_011528332.1:c.3435C>T XP_011526634.1:p.Cys1145=
XM_011528333.1:c.3435C>T XP_011526635.1:p.Cys1145=
XM_011528334.1:c.3111C>T XP_011526636.1:p.Cys1037=
XM_011528335.1:c.2004C>T XP_011526637.1:p.Cys668=
XM_011528336.1:c.1998C>T XP_011526638.1:p.Cys666=
XM_006722917.3:c.2331C>T XP_006722980.1:p.Cys777=
XM_017027338.2:c.3288C>T XP_016882827.1:p.Cys1096=
XM_017027339.1:c.1857C>T XP_016882828.1:p.Cys619=
XM_017027340.1:c.1851C>T XP_016882829.1:p.Cys617=
NM_030957.4:c.3288C>T MANE Select NP_112219.3:p.Cys1096=
NM_001282352.2:c.1749C>T NP_001269281.1:p.Cys583=