Canonical Allele Identifier: CA99549872
Gene: ADAMTS3 HGNC NCBI

Linked Data

dbSNP Id: rs966821413
gnomAD v3: 4-72313956-T-C
gnomAD v4: 4-72313956-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313956T>C , CM000666.2:g.72313956T>C GRCh38
NC_000004.11:g.73179673T>C , CM000666.1:g.73179673T>C GRCh37
NC_000004.10:g.73398537T>C NCBI36
NG_046955.1:g.259844A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1600-134A>G MANE Select ENSP00000286657.4:n.1600-134A>G
ENST00000286657.8:c.1600-134A>G ENSP00000286657.4:n.1600-134A>G
ENST00000622135.1:c.1600-134A>G ENSP00000480055.1:n.1600-134A>G
NM_014243.2:c.1600-134A>G NP_055058.2:n.1600-134A>G
XM_011532421.1:c.1543-134A>G XP_011530723.1:n.1543-134A>G
XM_011532422.1:c.1516-134A>G XP_011530724.1:n.1516-134A>G
XM_011532423.1:c.958-134A>G XP_011530725.1:n.958-134A>G
XM_011532424.1:c.868-134A>G XP_011530726.1:n.868-134A>G
XM_011532421.2:c.1543-134A>G XP_011530723.1:n.1543-134A>G
XM_011532422.3:c.1516-134A>G XP_011530724.1:n.1516-134A>G
NM_014243.3:c.1600-134A>G MANE Select NP_055058.2:n.1600-134A>G