Canonical Allele Identifier: CA377109011
Gene: ADAMTS14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70758077T>A , CM000672.2:g.70758077T>A GRCh38
NC_000010.10:g.72517833T>A , CM000672.1:g.72517833T>A GRCh37
NC_000010.9:g.72187839T>A NCBI36
NG_042147.1:g.90275T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373207.2:c.3053T>A MANE Select ENSP00000362303.1:p.Leu1018Gln
ENST00000373207.1:c.3053T>A ENSP00000362303.1:p.Leu1018Gln
ENST00000373208.5:c.3062T>A ENSP00000362304.1:p.Leu1021Gln
NM_080722.3:c.3053T>A NP_542453.2:p.Leu1018Gln
NM_139155.2:c.3062T>A NP_631894.2:p.Leu1021Gln
XM_011539300.1:c.2552T>A XP_011537602.1:p.Leu851Gln
XM_011539301.1:c.2126T>A XP_011537603.1:p.Leu709Gln
XM_011539302.1:c.2126T>A XP_011537604.1:p.Leu709Gln
XM_011539309.1:c.1622T>A XP_011537611.1:p.Leu541Gln
NM_080722.4:c.3053T>A MANE Select NP_542453.2:p.Leu1018Gln
NM_139155.3:c.3062T>A NP_631894.2:p.Leu1021Gln
XM_011539300.2:c.2552T>A XP_011537602.1:p.Leu851Gln
XM_011539301.2:c.2126T>A XP_011537603.1:p.Leu709Gln
XM_011539302.2:c.2126T>A XP_011537604.1:p.Leu709Gln