Canonical Allele Identifier: CA273578984
Gene: ADAMTSL3 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.83899406T>A , CM000677.2:g.83899406T>A GRCh38
NC_000015.9:g.84568158T>A , CM000677.1:g.84568158T>A GRCh37
NC_000015.8:g.82359162T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000286744.10:c.1616-241T>A MANE Select ENSP00000286744.5:n.1616-241T>A
ENST00000286744.9:c.1616-241T>A ENSP00000286744.5:n.1616-241T>A
ENST00000561483.5:n.1831-241T>A
ENST00000567476.1:c.1616-241T>A ENSP00000456313.1:n.1616-241T>A
NM_001301110.1:c.1616-241T>A NP_001288039.1:n.1616-241T>A
NM_207517.2:c.1616-241T>A NP_997400.2:n.1616-241T>A
XM_011521821.1:c.1697-241T>A XP_011520123.1:n.1697-241T>A
XM_011521822.1:c.1697-241T>A XP_011520124.1:n.1697-241T>A
XM_011521823.1:c.1697-241T>A XP_011520125.1:n.1697-241T>A
XM_011521824.1:c.1697-241T>A XP_011520126.1:n.1697-241T>A
XM_011521825.1:c.1697-241T>A XP_011520127.1:n.1697-241T>A
XR_931873.1:n.1730-241T>A
XM_011521822.2:c.1697-241T>A XP_011520124.1:n.1697-241T>A
XM_011521823.2:c.1697-241T>A XP_011520125.1:n.1697-241T>A
XM_011521824.2:c.1697-241T>A XP_011520126.1:n.1697-241T>A
XM_011521825.2:c.1697-241T>A XP_011520127.1:n.1697-241T>A
XM_017022434.1:c.1697-241T>A XP_016877923.1:n.1697-241T>A
XM_017022435.1:c.1121-241T>A XP_016877924.1:n.1121-241T>A
XM_024450000.1:c.1697-241T>A XP_024305768.1:n.1697-241T>A
XR_931873.2:n.1912-241T>A
NM_207517.3:c.1616-241T>A MANE Select NP_997400.2:n.1616-241T>A
NM_001301110.2:c.1616-241T>A NP_001288039.1:n.1616-241T>A