Canonical Allele Identifier: CA5540291

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs756901548
• ExAC: 10:72517742 A / G
• MyVariant Identifiers: chr10:g.72517742A>G (hg19) ; chr10:g.70757986A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70757986A>G , CM000672.2:g.70757986A>G	GRCh38
NC_000010.10:g.72517742A>G , CM000672.1:g.72517742A>G	GRCh37
NC_000010.9:g.72187748A>G	NCBI36
NG_042147.1:g.90184A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2962A>G MANE Select	ENSP00000362303.1:p.Ile988Val
ENST00000373207.1:c.2962A>G	ENSP00000362303.1:p.Ile988Val
ENST00000373208.5:c.2971A>G	ENSP00000362304.1:p.Ile991Val
NM_080722.3:c.2962A>G	NP_542453.2:p.Ile988Val
NM_139155.2:c.2971A>G	NP_631894.2:p.Ile991Val
XM_011539300.1:c.2461A>G	XP_011537602.1:p.Ile821Val
XM_011539301.1:c.2035A>G	XP_011537603.1:p.Ile679Val
XM_011539302.1:c.2035A>G	XP_011537604.1:p.Ile679Val
XM_011539308.1:c.*41A>G	XP_011537610.1:n.*41A>G
XM_011539309.1:c.1531A>G	XP_011537611.1:p.Ile511Val
NM_080722.4:c.2962A>G MANE Select	NP_542453.2:p.Ile988Val
NM_139155.3:c.2971A>G	NP_631894.2:p.Ile991Val
XM_011539300.2:c.2461A>G	XP_011537602.1:p.Ile821Val
XM_011539301.2:c.2035A>G	XP_011537603.1:p.Ile679Val
XM_011539302.2:c.2035A>G	XP_011537604.1:p.Ile679Val
XM_011539308.2:c.*41A>G	XP_011537610.1:n.*41A>G