Canonical Allele Identifier: CA403747923

Gene: ADAMTS10

Linked Data

• gnomAD v4: 19-8580958-T-G
• MyVariant Identifiers: chr19:g.8645842T>G (hg19) ; chr19:g.8580958T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580958T>G , CM000681.2:g.8580958T>G	GRCh38
NC_000019.9:g.8645842T>G , CM000681.1:g.8645842T>G	GRCh37
NC_000019.8:g.8551842T>G	NCBI36
NG_011840.2:g.34745A>C
NG_052844.1:g.1490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3247A>C MANE Select	ENSP00000471851.1:p.Lys1083Gln
ENST00000270328.8:c.3247A>C	ENSP00000270328.4:p.Lys1083Gln
ENST00000593913.5:c.*2124A>C	ENSP00000469901.1:n.*2124A>C
ENST00000595838.5:c.1708A>C	ENSP00000470501.1:p.Lys570Gln
ENST00000597188.5:c.3247A>C	ENSP00000471851.1:p.Lys1083Gln
NM_001282352.1:c.1708A>C	NP_001269281.1:p.Lys570Gln
NM_030957.3:c.3247A>C	NP_112219.3:p.Lys1083Gln
XM_006722917.2:c.2290A>C	XP_006722980.1:p.Lys764Gln
XM_011528331.1:c.3394A>C	XP_011526633.1:p.Lys1132Gln
XM_011528332.1:c.3394A>C	XP_011526634.1:p.Lys1132Gln
XM_011528333.1:c.3394A>C	XP_011526635.1:p.Lys1132Gln
XM_011528334.1:c.3070A>C	XP_011526636.1:p.Lys1024Gln
XM_011528335.1:c.1963A>C	XP_011526637.1:p.Lys655Gln
XM_011528336.1:c.1957A>C	XP_011526638.1:p.Lys653Gln
XM_006722917.3:c.2290A>C	XP_006722980.1:p.Lys764Gln
XM_017027338.2:c.3247A>C	XP_016882827.1:p.Lys1083Gln
XM_017027339.1:c.1816A>C	XP_016882828.1:p.Lys606Gln
XM_017027340.1:c.1810A>C	XP_016882829.1:p.Lys604Gln
NM_030957.4:c.3247A>C MANE Select	NP_112219.3:p.Lys1083Gln
NM_001282352.2:c.1708A>C	NP_001269281.1:p.Lys570Gln