Canonical Allele Identifier: CA2405724611
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40364967A= , CM000684.2:g.40364967A= GRCh38
NC_000022.10:g.40760971A= , CM000684.1:g.40760971A= GRCh37
NC_000022.9:g.39090917A= NCBI36
NG_007993.1:g.23468A=
NG_007993.2:g.23468A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*673A= ENSP00000485462.2:n.*673A=
ENST00000623287.4:c.*704A= ENSP00000485437.1:n.*704A=
ENST00000623632.4:c.970A= ENSP00000485288.2:p.Ile324=
ENST00000625194.4:c.1321A= ENSP00000485289.2:p.Ile441=
ENST00000636433.1:n.1301A=
ENST00000636714.1:c.1279A= ENSP00000490946.1:p.Ile427=
ENST00000637666.2:c.1191+602A= ENSP00000489696.2:n.1191+602A=
ENST00000637669.1:c.1279A= ENSP00000489728.1:p.Ile427=
ENST00000639722.1:c.*975A= ENSP00000492828.1:n.*975A=
ENST00000674592.1:n.2793A=
ENST00000675622.1:n.4346A=
ENST00000679609.1:c.*889A= ENSP00000506592.1:n.*889A=
ENST00000679656.1:n.1964A=
ENST00000679723.1:c.1234A= ENSP00000505155.1:p.Ile412=
ENST00000679845.1:n.1587A=
ENST00000679904.1:n.1675A=
ENST00000680378.1:c.1366A= ENSP00000505556.1:p.Ile456=
ENST00000680444.1:c.*642A= ENSP00000505298.1:n.*642A=
ENST00000680978.1:c.1279A= ENSP00000505244.1:p.Ile427=
ENST00000681003.1:n.742A=
ENST00000681159.1:n.2683A=
ENST00000216194.11:c.1321A= ENSP00000216194.8:p.Ile441=
ENST00000342312.9:c.1191+602A= ENSP00000341429.6:n.1191+602A=
ENST00000423176.6:c.6A=
ENST00000623063.3:c.1279A= MANE Select ENSP00000485525.1:p.Ile427=
ENST00000623387.1:n.410A=
ENST00000623869.3:c.10A= ENSP00000485211.1:p.Ile4=
ENST00000624027.1:c.6A=
ENST00000625194.3:c.908A=
NM_000026.2:c.1279A= NP_000017.1:p.Ile427=
NM_001123378.1:c.1191+602A= NP_001116850.1:n.1191+602A=
XM_011529976.1:c.1279A= XP_011528278.1:p.Ile427=
XM_011529977.1:c.1279A= XP_011528279.1:p.Ile427=
XM_011529978.1:c.1191+602A= XP_011528280.1:n.1191+602A=
XM_011529979.1:c.1279A= XP_011528281.1:p.Ile427=
XM_011529980.1:c.1191+602A= XP_011528282.1:n.1191+602A=
XM_011529981.1:c.814A= XP_011528283.1:p.Ile272=
XM_011529982.1:c.448A= XP_011528284.1:p.Ile150=
XR_937824.1:n.1369A=
XR_937825.1:n.1281+602A=
NM_000026.3:c.1279A= NP_000017.1:p.Ile427=
NM_001123378.2:c.1191+602A= NP_001116850.1:n.1191+602A=
NM_001317923.1:c.1087A= NP_001304852.1:p.Ile363=
NM_001363840.1:c.1279A= NP_001350769.1:p.Ile427=
NR_134256.1:n.1369A=
XM_011529977.3:c.1279A= XP_011528279.1:p.Ile427=
XM_011529980.3:c.1191+602A= XP_011528282.1:n.1191+602A=
XM_017028636.1:c.1234A= XP_016884125.1:p.Ile412=
XM_017028637.1:c.1234A= XP_016884126.1:p.Ile412=
XM_017028638.1:c.814A= XP_016884127.1:p.Ile272=
XM_017028639.2:c.814A= XP_016884128.1:p.Ile272=
XM_017028640.1:c.448A= XP_016884129.1:p.Ile150=
XM_024452166.1:c.1146+602A= XP_024307934.1:n.1146+602A=
XR_001755176.2:n.1521A=
XR_002958670.1:n.1306A=
XR_937825.3:n.1279+602A=
NM_000026.4:c.1279A= MANE Select NP_000017.1:p.Ile427=
NM_001363840.2:c.1279A= NP_001350769.1:p.Ile427=
NM_001123378.3:c.1191+602A= NP_001116850.1:n.1191+602A=
NM_001317923.2:c.1087A= NP_001304852.1:p.Ile363=
NM_001363840.3:c.1279A= NP_001350769.1:p.Ile427=
NR_134256.2:n.1369A=