Canonical Allele Identifier: CA552478877
Gene: ADAMTS3 HGNC NCBI

Linked Data

dbSNP Id: rs1394998573
gnomAD v2: 4-73179367-T-C
gnomAD v4: 4-72313650-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313650T>C , CM000666.2:g.72313650T>C GRCh38
NC_000004.11:g.73179367T>C , CM000666.1:g.73179367T>C GRCh37
NC_000004.10:g.73398231T>C NCBI36
NG_046955.1:g.260150A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286657.10:c.1745+27A>G MANE Select ENSP00000286657.4:n.1745+27A>G
ENST00000286657.8:c.1745+27A>G ENSP00000286657.4:n.1745+27A>G
ENST00000622135.1:c.1745+27A>G ENSP00000480055.1:n.1745+27A>G
NM_014243.2:c.1745+27A>G NP_055058.2:n.1745+27A>G
XM_011532421.1:c.1688+27A>G XP_011530723.1:n.1688+27A>G
XM_011532422.1:c.1661+27A>G XP_011530724.1:n.1661+27A>G
XM_011532423.1:c.1103+27A>G XP_011530725.1:n.1103+27A>G
XM_011532424.1:c.1013+27A>G XP_011530726.1:n.1013+27A>G
XM_011532421.2:c.1688+27A>G XP_011530723.1:n.1688+27A>G
XM_011532422.3:c.1661+27A>G XP_011530724.1:n.1661+27A>G
NM_014243.3:c.1745+27A>G MANE Select NP_055058.2:n.1745+27A>G