Canonical Allele Identifier: CA357430713
Gene: ADAMTS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313684T>A , CM000666.2:g.72313684T>A GRCh38
NC_000004.11:g.73179401T>A , CM000666.1:g.73179401T>A GRCh37
NC_000004.10:g.73398265T>A NCBI36
NG_046955.1:g.260116A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1738A>T MANE Select ENSP00000286657.4:p.Asn580Tyr
ENST00000286657.8:c.1738A>T ENSP00000286657.4:p.Asn580Tyr
ENST00000622135.1:c.1738A>T ENSP00000480055.1:p.Asn580Tyr
NM_014243.2:c.1738A>T NP_055058.2:p.Asn580Tyr
XM_011532421.1:c.1681A>T XP_011530723.1:p.Asn561Tyr
XM_011532422.1:c.1654A>T XP_011530724.1:p.Asn552Tyr
XM_011532423.1:c.1096A>T XP_011530725.1:p.Asn366Tyr
XM_011532424.1:c.1006A>T XP_011530726.1:p.Asn336Tyr
XM_011532421.2:c.1681A>T XP_011530723.1:p.Asn561Tyr
XM_011532422.3:c.1654A>T XP_011530724.1:p.Asn552Tyr
NM_014243.3:c.1738A>T MANE Select NP_055058.2:p.Asn580Tyr