Canonical Allele Identifier: CA2405724578
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40364895A= , CM000684.2:g.40364895A= GRCh38
NC_000022.10:g.40760899A= , CM000684.1:g.40760899A= GRCh37
NC_000022.9:g.39090845A= NCBI36
NG_007993.1:g.23396A=
NG_007993.2:g.23396A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*601A= ENSP00000485462.2:n.*601A=
ENST00000623287.4:c.*632A= ENSP00000485437.1:n.*632A=
ENST00000623632.4:c.898A= ENSP00000485288.2:p.Ile300=
ENST00000625194.4:c.1249A= ENSP00000485289.2:p.Ile417=
ENST00000636433.1:n.1229A=
ENST00000636714.1:c.1207A= ENSP00000490946.1:p.Ile403=
ENST00000637666.2:c.1191+530A= ENSP00000489696.2:n.1191+530A=
ENST00000637669.1:c.1207A= ENSP00000489728.1:p.Ile403=
ENST00000639722.1:c.*903A= ENSP00000492828.1:n.*903A=
ENST00000674592.1:n.2721A=
ENST00000675622.1:n.4274A=
ENST00000679609.1:c.*817A= ENSP00000506592.1:n.*817A=
ENST00000679656.1:n.1892A=
ENST00000679723.1:c.1162A= ENSP00000505155.1:p.Ile388=
ENST00000679845.1:n.1515A=
ENST00000679904.1:n.1603A=
ENST00000680378.1:c.1294A= ENSP00000505556.1:p.Ile432=
ENST00000680444.1:c.*570A= ENSP00000505298.1:n.*570A=
ENST00000680978.1:c.1207A= ENSP00000505244.1:p.Ile403=
ENST00000681003.1:n.670A=
ENST00000681159.1:n.2611A=
ENST00000216194.11:c.1249A= ENSP00000216194.8:p.Ile417=
ENST00000342312.9:c.1191+530A= ENSP00000341429.6:n.1191+530A=
ENST00000623063.3:c.1207A= MANE Select ENSP00000485525.1:p.Ile403=
ENST00000623387.1:n.338A=
ENST00000625194.3:c.836A=
NM_000026.2:c.1207A= NP_000017.1:p.Ile403=
NM_001123378.1:c.1191+530A= NP_001116850.1:n.1191+530A=
XM_011529976.1:c.1207A= XP_011528278.1:p.Ile403=
XM_011529977.1:c.1207A= XP_011528279.1:p.Ile403=
XM_011529978.1:c.1191+530A= XP_011528280.1:n.1191+530A=
XM_011529979.1:c.1207A= XP_011528281.1:p.Ile403=
XM_011529980.1:c.1191+530A= XP_011528282.1:n.1191+530A=
XM_011529981.1:c.742A= XP_011528283.1:p.Ile248=
XM_011529982.1:c.376A= XP_011528284.1:p.Ile126=
XR_937824.1:n.1297A=
XR_937825.1:n.1281+530A=
NM_000026.3:c.1207A= NP_000017.1:p.Ile403=
NM_001123378.2:c.1191+530A= NP_001116850.1:n.1191+530A=
NM_001317923.1:c.1015A= NP_001304852.1:p.Ile339=
NM_001363840.1:c.1207A= NP_001350769.1:p.Ile403=
NR_134256.1:n.1297A=
XM_011529977.3:c.1207A= XP_011528279.1:p.Ile403=
XM_011529980.3:c.1191+530A= XP_011528282.1:n.1191+530A=
XM_017028636.1:c.1162A= XP_016884125.1:p.Ile388=
XM_017028637.1:c.1162A= XP_016884126.1:p.Ile388=
XM_017028638.1:c.742A= XP_016884127.1:p.Ile248=
XM_017028639.2:c.742A= XP_016884128.1:p.Ile248=
XM_017028640.1:c.376A= XP_016884129.1:p.Ile126=
XM_024452166.1:c.1146+530A= XP_024307934.1:n.1146+530A=
XR_001755176.2:n.1449A=
XR_002958670.1:n.1234A=
XR_937825.3:n.1279+530A=
NM_000026.4:c.1207A= MANE Select NP_000017.1:p.Ile403=
NM_001363840.2:c.1207A= NP_001350769.1:p.Ile403=
NM_001123378.3:c.1191+530A= NP_001116850.1:n.1191+530A=
NM_001317923.2:c.1015A= NP_001304852.1:p.Ile339=
NM_001363840.3:c.1207A= NP_001350769.1:p.Ile403=
NR_134256.2:n.1297A=