Canonical Allele Identifier: CA403747875

Gene: ADAMTS10

Linked Data

• dbSNP Id: rs1227068531
• gnomAD v2: 19-8645826-C-T
• gnomAD v3: 19-8580942-C-T
• gnomAD v4: 19-8580942-C-T
• MyVariant Identifiers: chr19:g.8645826C>T (hg19) ; chr19:g.8580942C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580942C>T , CM000681.2:g.8580942C>T	GRCh38
NC_000019.9:g.8645826C>T , CM000681.1:g.8645826C>T	GRCh37
NC_000019.8:g.8551826C>T	NCBI36
NG_011840.2:g.34761G>A
NG_052844.1:g.1506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3263G>A MANE Select	ENSP00000471851.1:p.Ser1088Asn
ENST00000270328.8:c.3263G>A	ENSP00000270328.4:p.Ser1088Asn
ENST00000593913.5:c.*2140G>A	ENSP00000469901.1:n.*2140G>A
ENST00000595838.5:c.1724G>A	ENSP00000470501.1:p.Ser575Asn
ENST00000597188.5:c.3263G>A	ENSP00000471851.1:p.Ser1088Asn
NM_001282352.1:c.1724G>A	NP_001269281.1:p.Ser575Asn
NM_030957.3:c.3263G>A	NP_112219.3:p.Ser1088Asn
XM_006722917.2:c.2306G>A	XP_006722980.1:p.Ser769Asn
XM_011528331.1:c.3410G>A	XP_011526633.1:p.Ser1137Asn
XM_011528332.1:c.3410G>A	XP_011526634.1:p.Ser1137Asn
XM_011528333.1:c.3410G>A	XP_011526635.1:p.Ser1137Asn
XM_011528334.1:c.3086G>A	XP_011526636.1:p.Ser1029Asn
XM_011528335.1:c.1979G>A	XP_011526637.1:p.Ser660Asn
XM_011528336.1:c.1973G>A	XP_011526638.1:p.Ser658Asn
XM_006722917.3:c.2306G>A	XP_006722980.1:p.Ser769Asn
XM_017027338.2:c.3263G>A	XP_016882827.1:p.Ser1088Asn
XM_017027339.1:c.1832G>A	XP_016882828.1:p.Ser611Asn
XM_017027340.1:c.1826G>A	XP_016882829.1:p.Ser609Asn
NM_030957.4:c.3263G>A MANE Select	NP_112219.3:p.Ser1088Asn
NM_001282352.2:c.1724G>A	NP_001269281.1:p.Ser575Asn