Canonical Allele Identifier: CA2956897
Gene: ADAMTS3 HGNC NCBI

Linked Data

dbSNP Id: rs765503655
gnomAD v2: 4-73179551-G-A
gnomAD v4: 4-72313834-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313834G>A , CM000666.2:g.72313834G>A GRCh38
NC_000004.11:g.73179551G>A , CM000666.1:g.73179551G>A GRCh37
NC_000004.10:g.73398415G>A NCBI36
NG_046955.1:g.259966C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1600-12C>T MANE Select ENSP00000286657.4:n.1600-12C>T
ENST00000286657.8:c.1600-12C>T ENSP00000286657.4:n.1600-12C>T
ENST00000622135.1:c.1600-12C>T ENSP00000480055.1:n.1600-12C>T
NM_014243.2:c.1600-12C>T NP_055058.2:n.1600-12C>T
XM_011532421.1:c.1543-12C>T XP_011530723.1:n.1543-12C>T
XM_011532422.1:c.1516-12C>T XP_011530724.1:n.1516-12C>T
XM_011532423.1:c.958-12C>T XP_011530725.1:n.958-12C>T
XM_011532424.1:c.868-12C>T XP_011530726.1:n.868-12C>T
XM_011532421.2:c.1543-12C>T XP_011530723.1:n.1543-12C>T
XM_011532422.3:c.1516-12C>T XP_011530724.1:n.1516-12C>T
NM_014243.3:c.1600-12C>T MANE Select NP_055058.2:n.1600-12C>T