Canonical Allele Identifier: CA239717
Gene: ADSL HGNC NCBI

Linked Data

ClinVar Variation Id: 193966
dbSNP Id: rs754714101

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*601A>C ENSP00000485462.2:n.*601A>C
ENST00000623287.4:c.*632A>C ENSP00000485437.1:n.*632A>C
ENST00000623632.4:c.898A>C ENSP00000485288.2:p.Ile300Leu
ENST00000625194.4:c.1249A>C ENSP00000485289.2:p.Ile417Leu
ENST00000636433.1:n.1229A>C
ENST00000636714.1:c.1207A>C ENSP00000490946.1:p.Ile403Leu
ENST00000637666.2:c.1191+530A>C ENSP00000489696.2:n.1191+530A>C
ENST00000637669.1:c.1207A>C ENSP00000489728.1:p.Ile403Leu
ENST00000639722.1:c.*903A>C ENSP00000492828.1:n.*903A>C
ENST00000674592.1:n.2721A>C
ENST00000675622.1:n.4274A>C
ENST00000679609.1:c.*817A>C ENSP00000506592.1:n.*817A>C
ENST00000679656.1:n.1892A>C
ENST00000679723.1:c.1162A>C ENSP00000505155.1:p.Ile388Leu
ENST00000679845.1:n.1515A>C
ENST00000679904.1:n.1603A>C
ENST00000680378.1:c.1294A>C ENSP00000505556.1:p.Ile432Leu
ENST00000680444.1:c.*570A>C ENSP00000505298.1:n.*570A>C
ENST00000680978.1:c.1207A>C ENSP00000505244.1:p.Ile403Leu
ENST00000681003.1:n.670A>C
ENST00000681159.1:n.2611A>C
ENST00000216194.11:c.1249A>C ENSP00000216194.8:p.Ile417Leu
ENST00000342312.9:c.1191+530A>C ENSP00000341429.6:n.1191+530A>C
ENST00000623063.3:c.1207A>C MANE Select ENSP00000485525.1:p.Ile403Leu
ENST00000623387.1:n.338A>C
ENST00000625194.3:c.836A>C
NM_000026.2:c.1207A>C NP_000017.1:p.Ile403Leu
NM_001123378.1:c.1191+530A>C NP_001116850.1:n.1191+530A>C
XM_011529976.1:c.1207A>C XP_011528278.1:p.Ile403Leu
XM_011529977.1:c.1207A>C XP_011528279.1:p.Ile403Leu
XM_011529978.1:c.1191+530A>C XP_011528280.1:n.1191+530A>C
XM_011529979.1:c.1207A>C XP_011528281.1:p.Ile403Leu
XM_011529980.1:c.1191+530A>C XP_011528282.1:n.1191+530A>C
XM_011529981.1:c.742A>C XP_011528283.1:p.Ile248Leu
XM_011529982.1:c.376A>C XP_011528284.1:p.Ile126Leu
XR_937824.1:n.1297A>C
XR_937825.1:n.1281+530A>C
NM_000026.3:c.1207A>C NP_000017.1:p.Ile403Leu
NM_001123378.2:c.1191+530A>C NP_001116850.1:n.1191+530A>C
NM_001317923.1:c.1015A>C NP_001304852.1:p.Ile339Leu
NM_001363840.1:c.1207A>C NP_001350769.1:p.Ile403Leu
NR_134256.1:n.1297A>C
XM_011529977.3:c.1207A>C XP_011528279.1:p.Ile403Leu
XM_011529980.3:c.1191+530A>C XP_011528282.1:n.1191+530A>C
XM_017028636.1:c.1162A>C XP_016884125.1:p.Ile388Leu
XM_017028637.1:c.1162A>C XP_016884126.1:p.Ile388Leu
XM_017028638.1:c.742A>C XP_016884127.1:p.Ile248Leu
XM_017028639.2:c.742A>C XP_016884128.1:p.Ile248Leu
XM_017028640.1:c.376A>C XP_016884129.1:p.Ile126Leu
XM_024452166.1:c.1146+530A>C XP_024307934.1:n.1146+530A>C
XR_001755176.2:n.1449A>C
XR_002958670.1:n.1234A>C
XR_937825.3:n.1279+530A>C
NM_000026.4:c.1207A>C MANE Select NP_000017.1:p.Ile403Leu
NM_001363840.2:c.1207A>C NP_001350769.1:p.Ile403Leu
NM_001123378.3:c.1191+530A>C NP_001116850.1:n.1191+530A>C
NM_001317923.2:c.1015A>C NP_001304852.1:p.Ile339Leu
NM_001363840.3:c.1207A>C NP_001350769.1:p.Ile403Leu
NR_134256.2:n.1297A>C