Canonical Allele Identifier: CA2670948981
Gene: ADAMTS3 HGNC NCBI

Linked Data

gnomAD v4: 4-72313943-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313943G>C , CM000666.2:g.72313943G>C GRCh38
NC_000004.11:g.73179660G>C , CM000666.1:g.73179660G>C GRCh37
NC_000004.10:g.73398524G>C NCBI36
NG_046955.1:g.259857C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1600-121C>G MANE Select ENSP00000286657.4:n.1600-121C>G
ENST00000286657.8:c.1600-121C>G ENSP00000286657.4:n.1600-121C>G
ENST00000622135.1:c.1600-121C>G ENSP00000480055.1:n.1600-121C>G
NM_014243.2:c.1600-121C>G NP_055058.2:n.1600-121C>G
XM_011532421.1:c.1543-121C>G XP_011530723.1:n.1543-121C>G
XM_011532422.1:c.1516-121C>G XP_011530724.1:n.1516-121C>G
XM_011532423.1:c.958-121C>G XP_011530725.1:n.958-121C>G
XM_011532424.1:c.868-121C>G XP_011530726.1:n.868-121C>G
XM_011532421.2:c.1543-121C>G XP_011530723.1:n.1543-121C>G
XM_011532422.3:c.1516-121C>G XP_011530724.1:n.1516-121C>G
NM_014243.3:c.1600-121C>G MANE Select NP_055058.2:n.1600-121C>G