Canonical Allele Identifier: CA5540347
Gene: ADAMTS14 HGNC NCBI
COSMIC:
COSM3751934 (not active)
COSM5826768 (not active)
MyVariant.info:
GRCh38 chr10:g.70758253A>G
GRCh37 chr10:g.72518009A>G
Revel Score:
ENST00000373208 0.059
ENST00000373207 (MANE Select) 0.059
gnomAD v2:
10:72518009 A / G
gnomAD v3:
10:70758253 A / G
gnomAD v4:
chr10-70758253-A-G
Joint Max Group AF 0.37396636 (EAS)
Genomes Max Group AF 0.35480107 (EAS)
Exomes Max Group AF 0.37498203 (EAS)
ClinVar RCV:
RCV001710584
ClinVar Variation:
1287457
dbSNP:
4747096
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70758253A>G , CM000672.2:g.70758253A>G GRCh38
NC_000010.10:g.72518009A>G , CM000672.1:g.72518009A>G GRCh37
NC_000010.9:g.72188015A>G NCBI36
NG_042147.1:g.90451A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373207.2:c.3146A>G MANE Select ENSP00000362303.1:p.Glu1049Gly
ENST00000373207.1:c.3146A>G ENSP00000362303.1:p.Glu1049Gly
ENST00000373208.5:c.3155A>G ENSP00000362304.1:p.Glu1052Gly
NM_080722.3:c.3146A>G NP_542453.2:p.Glu1049Gly
NM_139155.2:c.3155A>G NP_631894.2:p.Glu1052Gly
XM_011539300.1:c.2645A>G XP_011537602.1:p.Glu882Gly
XM_011539301.1:c.2219A>G XP_011537603.1:p.Glu740Gly
XM_011539302.1:c.2219A>G XP_011537604.1:p.Glu740Gly
XM_011539309.1:c.1715A>G XP_011537611.1:p.Glu572Gly
NM_080722.4:c.3146A>G MANE Select NP_542453.2:p.Glu1049Gly
NM_139155.3:c.3155A>G NP_631894.2:p.Glu1052Gly
XM_011539300.2:c.2645A>G XP_011537602.1:p.Glu882Gly
XM_011539301.2:c.2219A>G XP_011537603.1:p.Glu740Gly
XM_011539302.2:c.2219A>G XP_011537604.1:p.Glu740Gly
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