Canonical Allele Identifier: CA357430725
Gene: ADAMTS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313688G>T , CM000666.2:g.72313688G>T GRCh38
NC_000004.11:g.73179405G>T , CM000666.1:g.73179405G>T GRCh37
NC_000004.10:g.73398269G>T NCBI36
NG_046955.1:g.260112C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1734C>A MANE Select ENSP00000286657.4:p.Cys578Ter
ENST00000286657.8:c.1734C>A ENSP00000286657.4:p.Cys578Ter
ENST00000622135.1:c.1734C>A ENSP00000480055.1:p.Cys578Ter
NM_014243.2:c.1734C>A NP_055058.2:p.Cys578Ter
XM_011532421.1:c.1677C>A XP_011530723.1:p.Cys559Ter
XM_011532422.1:c.1650C>A XP_011530724.1:p.Cys550Ter
XM_011532423.1:c.1092C>A XP_011530725.1:p.Cys364Ter
XM_011532424.1:c.1002C>A XP_011530726.1:p.Cys334Ter
XM_011532421.2:c.1677C>A XP_011530723.1:p.Cys559Ter
XM_011532422.3:c.1650C>A XP_011530724.1:p.Cys550Ter
NM_014243.3:c.1734C>A MANE Select NP_055058.2:p.Cys578Ter