Canonical Allele Identifier: CA5540311

Gene: ADAMTS14

Linked Data

• ClinVar Variation Id: 2522209
• ClinVar RCV Id: RCV004295350
• dbSNP Id: rs146237817
• ExAC: 10:72517796 G / A
• gnomAD v2: 10-72517796-G-A
• gnomAD v3: 10-70758040-G-A
• gnomAD v4: 10-70758040-G-A
• COSMIC: COSM3790922
• MyVariant Identifiers: chr10:g.72517796G>A (hg19) ; chr10:g.70758040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758040G>A , CM000672.2:g.70758040G>A	GRCh38
NC_000010.10:g.72517796G>A , CM000672.1:g.72517796G>A	GRCh37
NC_000010.9:g.72187802G>A	NCBI36
NG_042147.1:g.90238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3016G>A MANE Select	ENSP00000362303.1:p.Glu1006Lys
ENST00000373207.1:c.3016G>A	ENSP00000362303.1:p.Glu1006Lys
ENST00000373208.5:c.3025G>A	ENSP00000362304.1:p.Glu1009Lys
NM_080722.3:c.3016G>A	NP_542453.2:p.Glu1006Lys
NM_139155.2:c.3025G>A	NP_631894.2:p.Glu1009Lys
XM_011539300.1:c.2515G>A	XP_011537602.1:p.Glu839Lys
XM_011539301.1:c.2089G>A	XP_011537603.1:p.Glu697Lys
XM_011539302.1:c.2089G>A	XP_011537604.1:p.Glu697Lys
XM_011539309.1:c.1585G>A	XP_011537611.1:p.Glu529Lys
NM_080722.4:c.3016G>A MANE Select	NP_542453.2:p.Glu1006Lys
NM_139155.3:c.3025G>A	NP_631894.2:p.Glu1009Lys
XM_011539300.2:c.2515G>A	XP_011537602.1:p.Glu839Lys
XM_011539301.2:c.2089G>A	XP_011537603.1:p.Glu697Lys
XM_011539302.2:c.2089G>A	XP_011537604.1:p.Glu697Lys
XM_011539308.2:c.*95G>A	XP_011537610.1:n.*95G>A