Canonical Allele Identifier: CA313115
Gene: ADSL HGNC NCBI

Linked Data

ClinVar Variation Id: 204798
dbSNP Id: rs796052248

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40364964C>T , CM000684.2:g.40364964C>T GRCh38
NC_000022.10:g.40760968C>T , CM000684.1:g.40760968C>T GRCh37
NC_000022.9:g.39090914C>T NCBI36
NG_007993.1:g.23465C>T
NG_007993.2:g.23465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*670C>T ENSP00000485462.2:n.*670C>T
ENST00000623287.4:c.*701C>T ENSP00000485437.1:n.*701C>T
ENST00000623632.4:c.967C>T ENSP00000485288.2:p.Arg323Cys
ENST00000625194.4:c.1318C>T ENSP00000485289.2:p.Arg440Cys
ENST00000636433.1:n.1298C>T
ENST00000636714.1:c.1276C>T ENSP00000490946.1:p.Arg426Cys
ENST00000637666.2:c.1191+599C>T ENSP00000489696.2:n.1191+599C>T
ENST00000637669.1:c.1276C>T ENSP00000489728.1:p.Arg426Cys
ENST00000639722.1:c.*972C>T ENSP00000492828.1:n.*972C>T
ENST00000674592.1:n.2790C>T
ENST00000675622.1:n.4343C>T
ENST00000679609.1:c.*886C>T ENSP00000506592.1:n.*886C>T
ENST00000679656.1:n.1961C>T
ENST00000679723.1:c.1231C>T ENSP00000505155.1:p.Arg411Cys
ENST00000679845.1:n.1584C>T
ENST00000679904.1:n.1672C>T
ENST00000680378.1:c.1363C>T ENSP00000505556.1:p.Arg455Cys
ENST00000680444.1:c.*639C>T ENSP00000505298.1:n.*639C>T
ENST00000680978.1:c.1276C>T ENSP00000505244.1:p.Arg426Cys
ENST00000681003.1:n.739C>T
ENST00000681159.1:n.2680C>T
ENST00000216194.11:c.1318C>T ENSP00000216194.8:p.Arg440Cys
ENST00000342312.9:c.1191+599C>T ENSP00000341429.6:n.1191+599C>T
ENST00000423176.6:c.3C>T
ENST00000623063.3:c.1276C>T MANE Select ENSP00000485525.1:p.Arg426Cys
ENST00000623387.1:n.407C>T
ENST00000623869.3:c.7C>T ENSP00000485211.1:p.Arg3Cys
ENST00000624027.1:c.3C>T
ENST00000625194.3:c.905C>T
NM_000026.2:c.1276C>T NP_000017.1:p.Arg426Cys
NM_001123378.1:c.1191+599C>T NP_001116850.1:n.1191+599C>T
XM_011529976.1:c.1276C>T XP_011528278.1:p.Arg426Cys
XM_011529977.1:c.1276C>T XP_011528279.1:p.Arg426Cys
XM_011529978.1:c.1191+599C>T XP_011528280.1:n.1191+599C>T
XM_011529979.1:c.1276C>T XP_011528281.1:p.Arg426Cys
XM_011529980.1:c.1191+599C>T XP_011528282.1:n.1191+599C>T
XM_011529981.1:c.811C>T XP_011528283.1:p.Arg271Cys
XM_011529982.1:c.445C>T XP_011528284.1:p.Arg149Cys
XR_937824.1:n.1366C>T
XR_937825.1:n.1281+599C>T
NM_000026.3:c.1276C>T NP_000017.1:p.Arg426Cys
NM_001123378.2:c.1191+599C>T NP_001116850.1:n.1191+599C>T
NM_001317923.1:c.1084C>T NP_001304852.1:p.Arg362Cys
NM_001363840.1:c.1276C>T NP_001350769.1:p.Arg426Cys
NR_134256.1:n.1366C>T
XM_011529977.3:c.1276C>T XP_011528279.1:p.Arg426Cys
XM_011529980.3:c.1191+599C>T XP_011528282.1:n.1191+599C>T
XM_017028636.1:c.1231C>T XP_016884125.1:p.Arg411Cys
XM_017028637.1:c.1231C>T XP_016884126.1:p.Arg411Cys
XM_017028638.1:c.811C>T XP_016884127.1:p.Arg271Cys
XM_017028639.2:c.811C>T XP_016884128.1:p.Arg271Cys
XM_017028640.1:c.445C>T XP_016884129.1:p.Arg149Cys
XM_024452166.1:c.1146+599C>T XP_024307934.1:n.1146+599C>T
XR_001755176.2:n.1518C>T
XR_002958670.1:n.1303C>T
XR_937825.3:n.1279+599C>T
NM_000026.4:c.1276C>T MANE Select NP_000017.1:p.Arg426Cys
NM_001363840.2:c.1276C>T NP_001350769.1:p.Arg426Cys
NM_001123378.3:c.1191+599C>T NP_001116850.1:n.1191+599C>T
NM_001317923.2:c.1084C>T NP_001304852.1:p.Arg362Cys
NM_001363840.3:c.1276C>T NP_001350769.1:p.Arg426Cys
NR_134256.2:n.1366C>T