Canonical Allele Identifier: CA5540293

Gene: ADAMTS14

Linked Data

• ClinVar Variation Id: 2599299
• ClinVar RCV Id: RCV004347417
• dbSNP Id: rs750200846
• ExAC: 10:72517751 C / T
• gnomAD v2: 10-72517751-C-T
• gnomAD v3: 10-70757995-C-T
• gnomAD v4: 10-70757995-C-T
• COSMIC: COSM4015516
• MyVariant Identifiers: chr10:g.72517751C>T (hg19) ; chr10:g.70757995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70757995C>T , CM000672.2:g.70757995C>T	GRCh38
NC_000010.10:g.72517751C>T , CM000672.1:g.72517751C>T	GRCh37
NC_000010.9:g.72187757C>T	NCBI36
NG_042147.1:g.90193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2971C>T MANE Select	ENSP00000362303.1:p.Arg991Trp
ENST00000373207.1:c.2971C>T	ENSP00000362303.1:p.Arg991Trp
ENST00000373208.5:c.2980C>T	ENSP00000362304.1:p.Arg994Trp
NM_080722.3:c.2971C>T	NP_542453.2:p.Arg991Trp
NM_139155.2:c.2980C>T	NP_631894.2:p.Arg994Trp
XM_011539300.1:c.2470C>T	XP_011537602.1:p.Arg824Trp
XM_011539301.1:c.2044C>T	XP_011537603.1:p.Arg682Trp
XM_011539302.1:c.2044C>T	XP_011537604.1:p.Arg682Trp
XM_011539308.1:c.*50C>T	XP_011537610.1:n.*50C>T
XM_011539309.1:c.1540C>T	XP_011537611.1:p.Arg514Trp
NM_080722.4:c.2971C>T MANE Select	NP_542453.2:p.Arg991Trp
NM_139155.3:c.2980C>T	NP_631894.2:p.Arg994Trp
XM_011539300.2:c.2470C>T	XP_011537602.1:p.Arg824Trp
XM_011539301.2:c.2044C>T	XP_011537603.1:p.Arg682Trp
XM_011539302.2:c.2044C>T	XP_011537604.1:p.Arg682Trp
XM_011539308.2:c.*50C>T	XP_011537610.1:n.*50C>T