Canonical Allele Identifier: CA470056198
Gene: ADAMTS14 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.72517759G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70758003G>C , CM000672.2:g.70758003G>C GRCh38
NC_000010.10:g.72517759G>C , CM000672.1:g.72517759G>C GRCh37
NC_000010.9:g.72187765G>C NCBI36
NG_042147.1:g.90201G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373207.2:c.2979G>C MANE Select ENSP00000362303.1:p.Val993=
ENST00000373207.1:c.2979G>C ENSP00000362303.1:p.Val993=
ENST00000373208.5:c.2988G>C ENSP00000362304.1:p.Val996=
NM_080722.3:c.2979G>C NP_542453.2:p.Val993=
NM_139155.2:c.2988G>C NP_631894.2:p.Val996=
XM_011539300.1:c.2478G>C XP_011537602.1:p.Val826=
XM_011539301.1:c.2052G>C XP_011537603.1:p.Val684=
XM_011539302.1:c.2052G>C XP_011537604.1:p.Val684=
XM_011539308.1:c.*58G>C XP_011537610.1:n.*58G>C
XM_011539309.1:c.1548G>C XP_011537611.1:p.Val516=
NM_080722.4:c.2979G>C MANE Select NP_542453.2:p.Val993=
NM_139155.3:c.2988G>C NP_631894.2:p.Val996=
XM_011539300.2:c.2478G>C XP_011537602.1:p.Val826=
XM_011539301.2:c.2052G>C XP_011537603.1:p.Val684=
XM_011539302.2:c.2052G>C XP_011537604.1:p.Val684=
XM_011539308.2:c.*58G>C XP_011537610.1:n.*58G>C