Canonical Allele Identifier: CA403747925

Gene: ADAMTS10

Linked Data

• gnomAD v4: 19-8580960-A-G
• MyVariant Identifiers: chr19:g.8645844A>G (hg19) ; chr19:g.8580960A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580960A>G , CM000681.2:g.8580960A>G	GRCh38
NC_000019.9:g.8645844A>G , CM000681.1:g.8645844A>G	GRCh37
NC_000019.8:g.8551844A>G	NCBI36
NG_011840.2:g.34743T>C
NG_052844.1:g.1488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3245T>C MANE Select	ENSP00000471851.1:p.Leu1082Pro
ENST00000270328.8:c.3245T>C	ENSP00000270328.4:p.Leu1082Pro
ENST00000593913.5:c.*2122T>C	ENSP00000469901.1:n.*2122T>C
ENST00000595838.5:c.1706T>C	ENSP00000470501.1:p.Leu569Pro
ENST00000597188.5:c.3245T>C	ENSP00000471851.1:p.Leu1082Pro
NM_001282352.1:c.1706T>C	NP_001269281.1:p.Leu569Pro
NM_030957.3:c.3245T>C	NP_112219.3:p.Leu1082Pro
XM_006722917.2:c.2288T>C	XP_006722980.1:p.Leu763Pro
XM_011528331.1:c.3392T>C	XP_011526633.1:p.Leu1131Pro
XM_011528332.1:c.3392T>C	XP_011526634.1:p.Leu1131Pro
XM_011528333.1:c.3392T>C	XP_011526635.1:p.Leu1131Pro
XM_011528334.1:c.3068T>C	XP_011526636.1:p.Leu1023Pro
XM_011528335.1:c.1961T>C	XP_011526637.1:p.Leu654Pro
XM_011528336.1:c.1955T>C	XP_011526638.1:p.Leu652Pro
XM_006722917.3:c.2288T>C	XP_006722980.1:p.Leu763Pro
XM_017027338.2:c.3245T>C	XP_016882827.1:p.Leu1082Pro
XM_017027339.1:c.1814T>C	XP_016882828.1:p.Leu605Pro
XM_017027340.1:c.1808T>C	XP_016882829.1:p.Leu603Pro
NM_030957.4:c.3245T>C MANE Select	NP_112219.3:p.Leu1082Pro
NM_001282352.2:c.1706T>C	NP_001269281.1:p.Leu569Pro