Canonical Allele Identifier: CA357430717
Gene: ADAMTS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313685A>T , CM000666.2:g.72313685A>T GRCh38
NC_000004.11:g.73179402A>T , CM000666.1:g.73179402A>T GRCh37
NC_000004.10:g.73398266A>T NCBI36
NG_046955.1:g.260115T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1737T>A MANE Select ENSP00000286657.4:p.Asn579Lys
ENST00000286657.8:c.1737T>A ENSP00000286657.4:p.Asn579Lys
ENST00000622135.1:c.1737T>A ENSP00000480055.1:p.Asn579Lys
NM_014243.2:c.1737T>A NP_055058.2:p.Asn579Lys
XM_011532421.1:c.1680T>A XP_011530723.1:p.Asn560Lys
XM_011532422.1:c.1653T>A XP_011530724.1:p.Asn551Lys
XM_011532423.1:c.1095T>A XP_011530725.1:p.Asn365Lys
XM_011532424.1:c.1005T>A XP_011530726.1:p.Asn335Lys
XM_011532421.2:c.1680T>A XP_011530723.1:p.Asn560Lys
XM_011532422.3:c.1653T>A XP_011530724.1:p.Asn551Lys
NM_014243.3:c.1737T>A MANE Select NP_055058.2:p.Asn579Lys