Canonical Allele Identifier: CA2192045090
Gene: ADAMTSL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.83904289T>A , CM000677.2:g.83904289T>A GRCh38
NC_000015.9:g.84573041T>A , CM000677.1:g.84573041T>A GRCh37
NC_000015.8:g.82364045T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000286744.10:c.1700+4558T>A MANE Select ENSP00000286744.5:n.1700+4558T>A
ENST00000286744.9:c.1700+4558T>A ENSP00000286744.5:n.1700+4558T>A
ENST00000561483.5:n.1915+4558T>A
ENST00000567476.1:c.1700+4558T>A ENSP00000456313.1:n.1700+4558T>A
NM_001301110.1:c.1700+4558T>A NP_001288039.1:n.1700+4558T>A
NM_207517.2:c.1700+4558T>A NP_997400.2:n.1700+4558T>A
XM_011521821.1:c.1781+4558T>A XP_011520123.1:n.1781+4558T>A
XM_011521822.1:c.1781+4558T>A XP_011520124.1:n.1781+4558T>A
XM_011521823.1:c.1781+4558T>A XP_011520125.1:n.1781+4558T>A
XM_011521824.1:c.1781+4558T>A XP_011520126.1:n.1781+4558T>A
XM_011521825.1:c.1781+4558T>A XP_011520127.1:n.1781+4558T>A
XR_931873.1:n.1814+4558T>A
XM_011521822.2:c.1781+4558T>A XP_011520124.1:n.1781+4558T>A
XM_011521823.2:c.1781+4558T>A XP_011520125.1:n.1781+4558T>A
XM_011521824.2:c.1781+4558T>A XP_011520126.1:n.1781+4558T>A
XM_011521825.2:c.1781+4558T>A XP_011520127.1:n.1781+4558T>A
XM_017022434.1:c.1781+4558T>A XP_016877923.1:n.1781+4558T>A
XM_017022435.1:c.1205+4558T>A XP_016877924.1:n.1205+4558T>A
XM_024450000.1:c.1781+4558T>A XP_024305768.1:n.1781+4558T>A
XR_931873.2:n.1996+4558T>A
NM_207517.3:c.1700+4558T>A MANE Select NP_997400.2:n.1700+4558T>A
NM_001301110.2:c.1700+4558T>A NP_001288039.1:n.1700+4558T>A