Canonical Allele Identifier: CA1064026391
Gene: ADAMTS3 HGNC NCBI

Linked Data

dbSNP Id: rs577831301
gnomAD v3: 4-72313993-G-A
gnomAD v4: 4-72313993-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313993G>A , CM000666.2:g.72313993G>A GRCh38
NC_000004.11:g.73179710G>A , CM000666.1:g.73179710G>A GRCh37
NC_000004.10:g.73398574G>A NCBI36
NG_046955.1:g.259807C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1600-171C>T MANE Select ENSP00000286657.4:n.1600-171C>T
ENST00000286657.8:c.1600-171C>T ENSP00000286657.4:n.1600-171C>T
ENST00000622135.1:c.1600-171C>T ENSP00000480055.1:n.1600-171C>T
NM_014243.2:c.1600-171C>T NP_055058.2:n.1600-171C>T
XM_011532421.1:c.1543-171C>T XP_011530723.1:n.1543-171C>T
XM_011532422.1:c.1516-171C>T XP_011530724.1:n.1516-171C>T
XM_011532423.1:c.958-171C>T XP_011530725.1:n.958-171C>T
XM_011532424.1:c.868-171C>T XP_011530726.1:n.868-171C>T
XM_011532421.2:c.1543-171C>T XP_011530723.1:n.1543-171C>T
XM_011532422.3:c.1516-171C>T XP_011530724.1:n.1516-171C>T
NM_014243.3:c.1600-171C>T MANE Select NP_055058.2:n.1600-171C>T