Canonical Allele Identifier: CA2670948886
Gene: ADAMTS3 HGNC NCBI

Linked Data

gnomAD v4: 4-72313544-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313544T>A , CM000666.2:g.72313544T>A GRCh38
NC_000004.11:g.73179261T>A , CM000666.1:g.73179261T>A GRCh37
NC_000004.10:g.73398125T>A NCBI36
NG_046955.1:g.260256A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1745+133A>T MANE Select ENSP00000286657.4:n.1745+133A>T
ENST00000286657.8:c.1745+133A>T ENSP00000286657.4:n.1745+133A>T
ENST00000622135.1:c.1745+133A>T ENSP00000480055.1:n.1745+133A>T
NM_014243.2:c.1745+133A>T NP_055058.2:n.1745+133A>T
XM_011532421.1:c.1688+133A>T XP_011530723.1:n.1688+133A>T
XM_011532422.1:c.1661+133A>T XP_011530724.1:n.1661+133A>T
XM_011532423.1:c.1103+133A>T XP_011530725.1:n.1103+133A>T
XM_011532424.1:c.1013+133A>T XP_011530726.1:n.1013+133A>T
XM_011532421.2:c.1688+133A>T XP_011530723.1:n.1688+133A>T
XM_011532422.3:c.1661+133A>T XP_011530724.1:n.1661+133A>T
NM_014243.3:c.1745+133A>T MANE Select NP_055058.2:n.1745+133A>T