Canonical Allele Identifier: CA5539794
Gene: ADAMTS14 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10823607

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70741007T>C , CM000672.2:g.70741007T>C GRCh38
NC_000010.9:g.72170769T>C NCBI36
NC_000010.10:g.72500763T>C , CM000672.1:g.72500763T>C GRCh37
NG_042147.1:g.73205T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373207.1:n.1769T>C ENSP00000362303.1:p.Leu590Pro
ENST00000373208.5:n.1778T>C ENSP00000362304.1:p.Leu593Pro
NM_080722.3:n.1769T>C NP_542453.2:p.Leu590Pro
NM_139155.2:n.1778T>C NP_631894.2:p.Leu593Pro
XM_011539300.1:c.1778T>C XP_011537602.1:p.Leu593Pro
XM_011539301.1:c.842T>C XP_011537603.1:p.Leu281Pro
XM_011539302.1:c.842T>C XP_011537604.1:p.Leu281Pro
XM_011539303.1:c.1778T>C XP_011537605.1:p.Leu593Pro
XM_011539304.1:c.1778T>C XP_011537606.1:p.Leu593Pro
XM_011539305.1:c.1778T>C XP_011537607.1:p.Leu593Pro
XM_011539306.1:c.1778T>C XP_011537608.1:p.Leu593Pro
XM_011539307.1:c.1778T>C XP_011537609.1:p.Leu593Pro
XM_011539308.1:c.1778T>C XP_011537610.1:p.Leu593Pro
XM_011539309.1:c.338T>C XP_011537611.1:p.Leu113Pro