Canonical Allele Identifier: CA1064026453
Gene: ADAMTS3 HGNC NCBI

Linked Data

gnomAD v3: 4-72314017-A-T
gnomAD v4: 4-72314017-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72314017A>T , CM000666.2:g.72314017A>T GRCh38
NC_000004.11:g.73179734A>T , CM000666.1:g.73179734A>T GRCh37
NC_000004.10:g.73398598A>T NCBI36
NG_046955.1:g.259783T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1600-195T>A MANE Select ENSP00000286657.4:n.1600-195T>A
ENST00000286657.8:c.1600-195T>A ENSP00000286657.4:n.1600-195T>A
ENST00000622135.1:c.1600-195T>A ENSP00000480055.1:n.1600-195T>A
NM_014243.2:c.1600-195T>A NP_055058.2:n.1600-195T>A
XM_011532421.1:c.1543-195T>A XP_011530723.1:n.1543-195T>A
XM_011532422.1:c.1516-195T>A XP_011530724.1:n.1516-195T>A
XM_011532423.1:c.958-195T>A XP_011530725.1:n.958-195T>A
XM_011532424.1:c.868-195T>A XP_011530726.1:n.868-195T>A
XM_011532421.2:c.1543-195T>A XP_011530723.1:n.1543-195T>A
XM_011532422.3:c.1516-195T>A XP_011530724.1:n.1516-195T>A
NM_014243.3:c.1600-195T>A MANE Select NP_055058.2:n.1600-195T>A