Canonical Allele Identifier: CA357430711
Gene: ADAMTS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313683T>G , CM000666.2:g.72313683T>G GRCh38
NC_000004.11:g.73179400T>G , CM000666.1:g.73179400T>G GRCh37
NC_000004.10:g.73398264T>G NCBI36
NG_046955.1:g.260117A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1739A>C MANE Select ENSP00000286657.4:p.Asn580Thr
ENST00000286657.8:c.1739A>C ENSP00000286657.4:p.Asn580Thr
ENST00000622135.1:c.1739A>C ENSP00000480055.1:p.Asn580Thr
NM_014243.2:c.1739A>C NP_055058.2:p.Asn580Thr
XM_011532421.1:c.1682A>C XP_011530723.1:p.Asn561Thr
XM_011532422.1:c.1655A>C XP_011530724.1:p.Asn552Thr
XM_011532423.1:c.1097A>C XP_011530725.1:p.Asn366Thr
XM_011532424.1:c.1007A>C XP_011530726.1:p.Asn336Thr
XM_011532421.2:c.1682A>C XP_011530723.1:p.Asn561Thr
XM_011532422.3:c.1655A>C XP_011530724.1:p.Asn552Thr
NM_014243.3:c.1739A>C MANE Select NP_055058.2:p.Asn580Thr