Canonical Allele Identifier: CA470056217
Gene: ADAMTS14 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.72517777C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70758021C>G , CM000672.2:g.70758021C>G GRCh38
NC_000010.10:g.72517777C>G , CM000672.1:g.72517777C>G GRCh37
NC_000010.9:g.72187783C>G NCBI36
NG_042147.1:g.90219C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373207.2:c.2997C>G MANE Select ENSP00000362303.1:p.Ala999=
ENST00000373207.1:c.2997C>G ENSP00000362303.1:p.Ala999=
ENST00000373208.5:c.3006C>G ENSP00000362304.1:p.Ala1002=
NM_080722.3:c.2997C>G NP_542453.2:p.Ala999=
NM_139155.2:c.3006C>G NP_631894.2:p.Ala1002=
XM_011539300.1:c.2496C>G XP_011537602.1:p.Ala832=
XM_011539301.1:c.2070C>G XP_011537603.1:p.Ala690=
XM_011539302.1:c.2070C>G XP_011537604.1:p.Ala690=
XM_011539308.1:c.*76C>G XP_011537610.1:n.*76C>G
XM_011539309.1:c.1566C>G XP_011537611.1:p.Ala522=
NM_080722.4:c.2997C>G MANE Select NP_542453.2:p.Ala999=
NM_139155.3:c.3006C>G NP_631894.2:p.Ala1002=
XM_011539300.2:c.2496C>G XP_011537602.1:p.Ala832=
XM_011539301.2:c.2070C>G XP_011537603.1:p.Ala690=
XM_011539302.2:c.2070C>G XP_011537604.1:p.Ala690=
XM_011539308.2:c.*76C>G XP_011537610.1:n.*76C>G