Canonical Allele Identifier: CA411643705
Community Standard Title: NM_000026.4(ADSL):c.859A>G (p.Ile287Val)
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40361339A>G , CM000684.2:g.40361339A>G GRCh38
NC_000022.10:g.40757343A>G , CM000684.1:g.40757343A>G GRCh37
NC_000022.9:g.39087289A>G NCBI36
NG_007993.1:g.19840A>G
NG_007993.2:g.19840A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000026.4:c.859A>G MANE Select NP_000017.1:p.Ile287Val
ENST00000623063.3:c.859A>G MANE Select ENSP00000485525.1:p.Ile287Val
NM_000026.2:c.859A>G NP_000017.1:p.Ile287Val
NM_000026.3:c.859A>G NP_000017.1:p.Ile287Val
NM_001123378.1:c.859A>G NP_001116850.1:p.Ile287Val
NM_001123378.2:c.859A>G NP_001116850.1:p.Ile287Val
NM_001123378.3:c.859A>G NP_001116850.1:p.Ile287Val
NM_001317923.1:c.667A>G NP_001304852.1:p.Ile223Val
NM_001317923.2:c.667A>G NP_001304852.1:p.Ile223Val
NM_001363840.1:c.859A>G NP_001350769.1:p.Ile287Val
NM_001363840.2:c.859A>G NP_001350769.1:p.Ile287Val
NM_001363840.3:c.859A>G NP_001350769.1:p.Ile287Val
NR_134256.1:n.918A>G
NR_134256.2:n.918A>G
ENST00000216194.11:c.901A>G ENSP00000216194.8:p.Ile301Val
ENST00000342312.9:c.859A>G ENSP00000341429.6:p.Ile287Val
ENST00000480775.2:c.458A>G
ENST00000480775.3:c.*222A>G ENSP00000485462.2:n.*222A>G
ENST00000623287.3:c.*284A>G ENSP00000485437.1:n.*284A>G
ENST00000623287.4:c.*284A>G ENSP00000485437.1:n.*284A>G
ENST00000623632.4:c.792+847A>G ENSP00000485288.2:n.792+847A>G
ENST00000623978.3:c.319A>G ENSP00000485477.1:p.Ile107Val
ENST00000625194.3:c.446A>G
ENST00000625194.4:c.859A>G ENSP00000485289.2:p.Ile287Val
ENST00000636265.1:c.859A>G ENSP00000490909.1:p.Ile287Val
ENST00000636433.1:n.881A>G
ENST00000636714.1:c.859A>G ENSP00000490946.1:p.Ile287Val
ENST00000637666.2:c.859A>G ENSP00000489696.2:p.Ile287Val
ENST00000637669.1:c.859A>G ENSP00000489728.1:p.Ile287Val
ENST00000639722.1:c.*555A>G ENSP00000492828.1:n.*555A>G
ENST00000674592.1:n.883A>G
ENST00000675622.1:n.3926A>G
ENST00000679609.1:c.*469A>G ENSP00000506592.1:n.*469A>G
ENST00000679656.1:n.1544A>G
ENST00000679723.1:c.814A>G ENSP00000505155.1:p.Ile272Val
ENST00000679845.1:n.1167A>G
ENST00000679904.1:n.1255A>G
ENST00000680378.1:c.946A>G ENSP00000505556.1:p.Ile316Val
ENST00000680444.1:c.*222A>G ENSP00000505298.1:n.*222A>G
ENST00000680978.1:c.859A>G ENSP00000505244.1:p.Ile287Val
ENST00000681003.1:n.291A>G
ENST00000681159.1:n.918A>G
XM_011529976.1:c.859A>G XP_011528278.1:p.Ile287Val
XM_011529977.1:c.859A>G XP_011528279.1:p.Ile287Val
XM_011529977.3:c.859A>G XP_011528279.1:p.Ile287Val
XM_011529978.1:c.859A>G XP_011528280.1:p.Ile287Val
XM_011529979.1:c.859A>G XP_011528281.1:p.Ile287Val
XM_011529980.1:c.859A>G XP_011528282.1:p.Ile287Val
XM_011529980.3:c.859A>G XP_011528282.1:p.Ile287Val
XM_011529981.1:c.394A>G XP_011528283.1:p.Ile132Val
XM_011529982.1:c.28A>G XP_011528284.1:p.Ile10Val
XM_017028636.1:c.814A>G XP_016884125.1:p.Ile272Val
XM_017028637.1:c.814A>G XP_016884126.1:p.Ile272Val
XM_017028638.1:c.394A>G XP_016884127.1:p.Ile132Val
XM_017028639.2:c.394A>G XP_016884128.1:p.Ile132Val
XM_017028640.1:c.28A>G XP_016884129.1:p.Ile10Val
XM_024452166.1:c.814A>G XP_024307934.1:p.Ile272Val
XR_001755176.2:n.1101A>G
XR_002958670.1:n.855A>G
XR_002958671.1:n.1101A>G
XR_937824.1:n.918A>G
XR_937825.1:n.918A>G
XR_937825.3:n.916A>G
XR_937826.1:n.1103A>G