Canonical Allele Identifier: CA411648684
Gene: ADSL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40365039G>C , CM000684.2:g.40365039G>C GRCh38
NC_000022.10:g.40761043G>C , CM000684.1:g.40761043G>C GRCh37
NC_000022.9:g.39090989G>C NCBI36
NG_007993.1:g.23540G>C
NG_007993.2:g.23540G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*745G>C ENSP00000485462.2:n.*745G>C
ENST00000623287.4:c.*776G>C ENSP00000485437.1:n.*776G>C
ENST00000623632.4:c.1042G>C ENSP00000485288.2:p.Gly348Arg
ENST00000625194.4:c.1393G>C ENSP00000485289.2:p.Gly465Arg
ENST00000636433.1:n.1373G>C
ENST00000636714.1:c.1351G>C ENSP00000490946.1:p.Gly451Arg
ENST00000637666.2:c.1191+674G>C ENSP00000489696.2:n.1191+674G>C
ENST00000637669.1:c.1351G>C ENSP00000489728.1:p.Gly451Arg
ENST00000639722.1:c.*1047G>C ENSP00000492828.1:n.*1047G>C
ENST00000674592.1:n.2865G>C
ENST00000675622.1:n.4418G>C
ENST00000679609.1:c.*961G>C ENSP00000506592.1:n.*961G>C
ENST00000679656.1:n.2036G>C
ENST00000679723.1:c.1306G>C ENSP00000505155.1:p.Gly436Arg
ENST00000679845.1:n.1659G>C
ENST00000679904.1:n.1747G>C
ENST00000680378.1:c.1438G>C ENSP00000505556.1:p.Gly480Arg
ENST00000680444.1:c.*714G>C ENSP00000505298.1:n.*714G>C
ENST00000680978.1:c.1351G>C ENSP00000505244.1:p.Gly451Arg
ENST00000681003.1:n.814G>C
ENST00000681159.1:n.2755G>C
ENST00000216194.11:c.1393G>C ENSP00000216194.8:p.Gly465Arg
ENST00000342312.9:c.1191+674G>C ENSP00000341429.6:n.1191+674G>C
ENST00000423176.6:c.78G>C
ENST00000498234.2:c.9G>C
ENST00000623063.3:c.1351G>C MANE Select ENSP00000485525.1:p.Gly451Arg
ENST00000623387.1:n.482G>C
ENST00000623869.3:c.82G>C ENSP00000485211.1:p.Gly28Arg
ENST00000624027.1:c.78G>C
ENST00000625194.3:c.980G>C
NM_000026.2:c.1351G>C NP_000017.1:p.Gly451Arg
NM_001123378.1:c.1191+674G>C NP_001116850.1:n.1191+674G>C
XM_011529976.1:c.1351G>C XP_011528278.1:p.Gly451Arg
XM_011529977.1:c.1351G>C XP_011528279.1:p.Gly451Arg
XM_011529978.1:c.1191+674G>C XP_011528280.1:n.1191+674G>C
XM_011529979.1:c.1351G>C XP_011528281.1:p.Gly451Arg
XM_011529980.1:c.1191+674G>C XP_011528282.1:n.1191+674G>C
XM_011529981.1:c.886G>C XP_011528283.1:p.Gly296Arg
XM_011529982.1:c.520G>C XP_011528284.1:p.Gly174Arg
XR_937824.1:n.1441G>C
XR_937825.1:n.1281+674G>C
NM_000026.3:c.1351G>C NP_000017.1:p.Gly451Arg
NM_001123378.2:c.1191+674G>C NP_001116850.1:n.1191+674G>C
NM_001317923.1:c.1159G>C NP_001304852.1:p.Gly387Arg
NM_001363840.1:c.1351G>C NP_001350769.1:p.Gly451Arg
NR_134256.1:n.1441G>C
XM_011529977.3:c.1351G>C XP_011528279.1:p.Gly451Arg
XM_011529980.3:c.1191+674G>C XP_011528282.1:n.1191+674G>C
XM_017028636.1:c.1306G>C XP_016884125.1:p.Gly436Arg
XM_017028637.1:c.1306G>C XP_016884126.1:p.Gly436Arg
XM_017028638.1:c.886G>C XP_016884127.1:p.Gly296Arg
XM_017028639.2:c.886G>C XP_016884128.1:p.Gly296Arg
XM_017028640.1:c.520G>C XP_016884129.1:p.Gly174Arg
XM_024452166.1:c.1146+674G>C XP_024307934.1:n.1146+674G>C
XR_001755176.2:n.1593G>C
XR_002958670.1:n.1378G>C
XR_937825.3:n.1279+674G>C
NM_000026.4:c.1351G>C MANE Select NP_000017.1:p.Gly451Arg
NM_001363840.2:c.1351G>C NP_001350769.1:p.Gly451Arg
NM_001123378.3:c.1191+674G>C NP_001116850.1:n.1191+674G>C
NM_001317923.2:c.1159G>C NP_001304852.1:p.Gly387Arg
NM_001363840.3:c.1351G>C NP_001350769.1:p.Gly451Arg
NR_134256.2:n.1441G>C