Canonical Allele Identifier: CA2405724637
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40365028C= , CM000684.2:g.40365028C= GRCh38
NC_000022.10:g.40761032C= , CM000684.1:g.40761032C= GRCh37
NC_000022.9:g.39090978C= NCBI36
NG_007993.1:g.23529C=
NG_007993.2:g.23529C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*734C= ENSP00000485462.2:n.*734C=
ENST00000623287.4:c.*765C= ENSP00000485437.1:n.*765C=
ENST00000623632.4:c.1031C= ENSP00000485288.2:p.Ser344=
ENST00000625194.4:c.1382C= ENSP00000485289.2:p.Ser461=
ENST00000636433.1:n.1362C=
ENST00000636714.1:c.1340C= ENSP00000490946.1:p.Ser447=
ENST00000637666.2:c.1191+663C= ENSP00000489696.2:n.1191+663C=
ENST00000637669.1:c.1340C= ENSP00000489728.1:p.Ser447=
ENST00000639722.1:c.*1036C= ENSP00000492828.1:n.*1036C=
ENST00000674592.1:n.2854C=
ENST00000675622.1:n.4407C=
ENST00000679609.1:c.*950C= ENSP00000506592.1:n.*950C=
ENST00000679656.1:n.2025C=
ENST00000679723.1:c.1295C= ENSP00000505155.1:p.Ser432=
ENST00000679845.1:n.1648C=
ENST00000679904.1:n.1736C=
ENST00000680378.1:c.1427C= ENSP00000505556.1:p.Ser476=
ENST00000680444.1:c.*703C= ENSP00000505298.1:n.*703C=
ENST00000680978.1:c.1340C= ENSP00000505244.1:p.Ser447=
ENST00000681003.1:n.803C=
ENST00000681159.1:n.2744C=
ENST00000216194.11:c.1382C= ENSP00000216194.8:p.Ser461=
ENST00000342312.9:c.1191+663C= ENSP00000341429.6:n.1191+663C=
ENST00000423176.6:c.67C=
ENST00000623063.3:c.1340C= MANE Select ENSP00000485525.1:p.Ser447=
ENST00000623387.1:n.471C=
ENST00000623869.3:c.71C= ENSP00000485211.1:p.Ser24=
ENST00000624027.1:c.67C=
ENST00000625194.3:c.969C=
NM_000026.2:c.1340C= NP_000017.1:p.Ser447=
NM_001123378.1:c.1191+663C= NP_001116850.1:n.1191+663C=
XM_011529976.1:c.1340C= XP_011528278.1:p.Ser447=
XM_011529977.1:c.1340C= XP_011528279.1:p.Ser447=
XM_011529978.1:c.1191+663C= XP_011528280.1:n.1191+663C=
XM_011529979.1:c.1340C= XP_011528281.1:p.Ser447=
XM_011529980.1:c.1191+663C= XP_011528282.1:n.1191+663C=
XM_011529981.1:c.875C= XP_011528283.1:p.Ser292=
XM_011529982.1:c.509C= XP_011528284.1:p.Ser170=
XR_937824.1:n.1430C=
XR_937825.1:n.1281+663C=
NM_000026.3:c.1340C= NP_000017.1:p.Ser447=
NM_001123378.2:c.1191+663C= NP_001116850.1:n.1191+663C=
NM_001317923.1:c.1148C= NP_001304852.1:p.Ser383=
NM_001363840.1:c.1340C= NP_001350769.1:p.Ser447=
NR_134256.1:n.1430C=
XM_011529977.3:c.1340C= XP_011528279.1:p.Ser447=
XM_011529980.3:c.1191+663C= XP_011528282.1:n.1191+663C=
XM_017028636.1:c.1295C= XP_016884125.1:p.Ser432=
XM_017028637.1:c.1295C= XP_016884126.1:p.Ser432=
XM_017028638.1:c.875C= XP_016884127.1:p.Ser292=
XM_017028639.2:c.875C= XP_016884128.1:p.Ser292=
XM_017028640.1:c.509C= XP_016884129.1:p.Ser170=
XM_024452166.1:c.1146+663C= XP_024307934.1:n.1146+663C=
XR_001755176.2:n.1582C=
XR_002958670.1:n.1367C=
XR_937825.3:n.1279+663C=
NM_000026.4:c.1340C= MANE Select NP_000017.1:p.Ser447=
NM_001363840.2:c.1340C= NP_001350769.1:p.Ser447=
NM_001123378.3:c.1191+663C= NP_001116850.1:n.1191+663C=
NM_001317923.2:c.1148C= NP_001304852.1:p.Ser383=
NM_001363840.3:c.1340C= NP_001350769.1:p.Ser447=
NR_134256.2:n.1430C=