Canonical Allele Identifier: CA313120
Gene: ADSL HGNC NCBI

Linked Data

ClinVar Variation Id: 204801
dbSNP Id: rs777821034

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40365027T>C , CM000684.2:g.40365027T>C GRCh38
NC_000022.10:g.40761031T>C , CM000684.1:g.40761031T>C GRCh37
NC_000022.9:g.39090977T>C NCBI36
NG_007993.1:g.23528T>C
NG_007993.2:g.23528T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*733T>C ENSP00000485462.2:n.*733T>C
ENST00000623287.4:c.*764T>C ENSP00000485437.1:n.*764T>C
ENST00000623632.4:c.1030T>C ENSP00000485288.2:p.Ser344Pro
ENST00000625194.4:c.1381T>C ENSP00000485289.2:p.Ser461Pro
ENST00000636433.1:n.1361T>C
ENST00000636714.1:c.1339T>C ENSP00000490946.1:p.Ser447Pro
ENST00000637666.2:c.1191+662T>C ENSP00000489696.2:n.1191+662T>C
ENST00000637669.1:c.1339T>C ENSP00000489728.1:p.Ser447Pro
ENST00000639722.1:c.*1035T>C ENSP00000492828.1:n.*1035T>C
ENST00000674592.1:n.2853T>C
ENST00000675622.1:n.4406T>C
ENST00000679609.1:c.*949T>C ENSP00000506592.1:n.*949T>C
ENST00000679656.1:n.2024T>C
ENST00000679723.1:c.1294T>C ENSP00000505155.1:p.Ser432Pro
ENST00000679845.1:n.1647T>C
ENST00000679904.1:n.1735T>C
ENST00000680378.1:c.1426T>C ENSP00000505556.1:p.Ser476Pro
ENST00000680444.1:c.*702T>C ENSP00000505298.1:n.*702T>C
ENST00000680978.1:c.1339T>C ENSP00000505244.1:p.Ser447Pro
ENST00000681003.1:n.802T>C
ENST00000681159.1:n.2743T>C
ENST00000216194.11:c.1381T>C ENSP00000216194.8:p.Ser461Pro
ENST00000342312.9:c.1191+662T>C ENSP00000341429.6:n.1191+662T>C
ENST00000423176.6:c.66T>C
ENST00000623063.3:c.1339T>C MANE Select ENSP00000485525.1:p.Ser447Pro
ENST00000623387.1:n.470T>C
ENST00000623869.3:c.70T>C ENSP00000485211.1:p.Ser24Pro
ENST00000624027.1:c.66T>C
ENST00000625194.3:c.968T>C
NM_000026.2:c.1339T>C NP_000017.1:p.Ser447Pro
NM_001123378.1:c.1191+662T>C NP_001116850.1:n.1191+662T>C
XM_011529976.1:c.1339T>C XP_011528278.1:p.Ser447Pro
XM_011529977.1:c.1339T>C XP_011528279.1:p.Ser447Pro
XM_011529978.1:c.1191+662T>C XP_011528280.1:n.1191+662T>C
XM_011529979.1:c.1339T>C XP_011528281.1:p.Ser447Pro
XM_011529980.1:c.1191+662T>C XP_011528282.1:n.1191+662T>C
XM_011529981.1:c.874T>C XP_011528283.1:p.Ser292Pro
XM_011529982.1:c.508T>C XP_011528284.1:p.Ser170Pro
XR_937824.1:n.1429T>C
XR_937825.1:n.1281+662T>C
NM_000026.3:c.1339T>C NP_000017.1:p.Ser447Pro
NM_001123378.2:c.1191+662T>C NP_001116850.1:n.1191+662T>C
NM_001317923.1:c.1147T>C NP_001304852.1:p.Ser383Pro
NM_001363840.1:c.1339T>C NP_001350769.1:p.Ser447Pro
NR_134256.1:n.1429T>C
XM_011529977.3:c.1339T>C XP_011528279.1:p.Ser447Pro
XM_011529980.3:c.1191+662T>C XP_011528282.1:n.1191+662T>C
XM_017028636.1:c.1294T>C XP_016884125.1:p.Ser432Pro
XM_017028637.1:c.1294T>C XP_016884126.1:p.Ser432Pro
XM_017028638.1:c.874T>C XP_016884127.1:p.Ser292Pro
XM_017028639.2:c.874T>C XP_016884128.1:p.Ser292Pro
XM_017028640.1:c.508T>C XP_016884129.1:p.Ser170Pro
XM_024452166.1:c.1146+662T>C XP_024307934.1:n.1146+662T>C
XR_001755176.2:n.1581T>C
XR_002958670.1:n.1366T>C
XR_937825.3:n.1279+662T>C
NM_000026.4:c.1339T>C MANE Select NP_000017.1:p.Ser447Pro
NM_001363840.2:c.1339T>C NP_001350769.1:p.Ser447Pro
NM_001123378.3:c.1191+662T>C NP_001116850.1:n.1191+662T>C
NM_001317923.2:c.1147T>C NP_001304852.1:p.Ser383Pro
NM_001363840.3:c.1339T>C NP_001350769.1:p.Ser447Pro
NR_134256.2:n.1429T>C