Canonical Allele Identifier: CA5540347

Gene: ADAMTS14

Linked Data

• ClinVar Variation Id: 1287457
• ClinVar RCV Id: RCV001710584
• dbSNP Id: rs4747096
• ExAC: 10:72518009 A / G
• gnomAD v2: 10-72518009-A-G
• gnomAD v3: 10-70758253-A-G
• gnomAD v4: 10-70758253-A-G
• MyVariant Identifiers: chr10:g.72518009A>G (hg19) ; chr10:g.70758253A>G (hg38)

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