Canonical Allele Identifier: CA1064026285
Gene: ADAMTS3 HGNC NCBI

Linked Data

dbSNP Id: rs1298442225
gnomAD v3: 4-72313638-T-G
gnomAD v4: 4-72313638-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313638T>G , CM000666.2:g.72313638T>G GRCh38
NC_000004.11:g.73179355T>G , CM000666.1:g.73179355T>G GRCh37
NC_000004.10:g.73398219T>G NCBI36
NG_046955.1:g.260162A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286657.10:c.1745+39A>C MANE Select ENSP00000286657.4:n.1745+39A>C
ENST00000286657.8:c.1745+39A>C ENSP00000286657.4:n.1745+39A>C
ENST00000622135.1:c.1745+39A>C ENSP00000480055.1:n.1745+39A>C
NM_014243.2:c.1745+39A>C NP_055058.2:n.1745+39A>C
XM_011532421.1:c.1688+39A>C XP_011530723.1:n.1688+39A>C
XM_011532422.1:c.1661+39A>C XP_011530724.1:n.1661+39A>C
XM_011532423.1:c.1103+39A>C XP_011530725.1:n.1103+39A>C
XM_011532424.1:c.1013+39A>C XP_011530726.1:n.1013+39A>C
XM_011532421.2:c.1688+39A>C XP_011530723.1:n.1688+39A>C
XM_011532422.3:c.1661+39A>C XP_011530724.1:n.1661+39A>C
NM_014243.3:c.1745+39A>C MANE Select NP_055058.2:n.1745+39A>C
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