Canonical Allele Identifier: CA2405724576
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40364888T= , CM000684.2:g.40364888T= GRCh38
NC_000022.10:g.40760892T= , CM000684.1:g.40760892T= GRCh37
NC_000022.9:g.39090838T= NCBI36
NG_007993.1:g.23389T=
NG_007993.2:g.23389T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*594T= ENSP00000485462.2:n.*594T=
ENST00000623287.4:c.*625T= ENSP00000485437.1:n.*625T=
ENST00000623632.4:c.891T= ENSP00000485288.2:p.His297=
ENST00000625194.4:c.1242T= ENSP00000485289.2:p.His414=
ENST00000636433.1:n.1222T=
ENST00000636714.1:c.1200T= ENSP00000490946.1:p.His400=
ENST00000637666.2:c.1191+523T= ENSP00000489696.2:n.1191+523T=
ENST00000637669.1:c.1200T= ENSP00000489728.1:p.His400=
ENST00000639722.1:c.*896T= ENSP00000492828.1:n.*896T=
ENST00000674592.1:n.2714T=
ENST00000675622.1:n.4267T=
ENST00000679609.1:c.*810T= ENSP00000506592.1:n.*810T=
ENST00000679656.1:n.1885T=
ENST00000679723.1:c.1155T= ENSP00000505155.1:p.His385=
ENST00000679845.1:n.1508T=
ENST00000679904.1:n.1596T=
ENST00000680378.1:c.1287T= ENSP00000505556.1:p.His429=
ENST00000680444.1:c.*563T= ENSP00000505298.1:n.*563T=
ENST00000680978.1:c.1200T= ENSP00000505244.1:p.His400=
ENST00000681003.1:n.663T=
ENST00000681159.1:n.2604T=
ENST00000216194.11:c.1242T= ENSP00000216194.8:p.His414=
ENST00000342312.9:c.1191+523T= ENSP00000341429.6:n.1191+523T=
ENST00000623063.3:c.1200T= MANE Select ENSP00000485525.1:p.His400=
ENST00000623387.1:n.331T=
ENST00000625194.3:c.829T=
NM_000026.2:c.1200T= NP_000017.1:p.His400=
NM_001123378.1:c.1191+523T= NP_001116850.1:n.1191+523T=
XM_011529976.1:c.1200T= XP_011528278.1:p.His400=
XM_011529977.1:c.1200T= XP_011528279.1:p.His400=
XM_011529978.1:c.1191+523T= XP_011528280.1:n.1191+523T=
XM_011529979.1:c.1200T= XP_011528281.1:p.His400=
XM_011529980.1:c.1191+523T= XP_011528282.1:n.1191+523T=
XM_011529981.1:c.735T= XP_011528283.1:p.His245=
XM_011529982.1:c.369T= XP_011528284.1:p.His123=
XR_937824.1:n.1290T=
XR_937825.1:n.1281+523T=
NM_000026.3:c.1200T= NP_000017.1:p.His400=
NM_001123378.2:c.1191+523T= NP_001116850.1:n.1191+523T=
NM_001317923.1:c.1008T= NP_001304852.1:p.His336=
NM_001363840.1:c.1200T= NP_001350769.1:p.His400=
NR_134256.1:n.1290T=
XM_011529977.3:c.1200T= XP_011528279.1:p.His400=
XM_011529980.3:c.1191+523T= XP_011528282.1:n.1191+523T=
XM_017028636.1:c.1155T= XP_016884125.1:p.His385=
XM_017028637.1:c.1155T= XP_016884126.1:p.His385=
XM_017028638.1:c.735T= XP_016884127.1:p.His245=
XM_017028639.2:c.735T= XP_016884128.1:p.His245=
XM_017028640.1:c.369T= XP_016884129.1:p.His123=
XM_024452166.1:c.1146+523T= XP_024307934.1:n.1146+523T=
XR_001755176.2:n.1442T=
XR_002958670.1:n.1227T=
XR_937825.3:n.1279+523T=
NM_000026.4:c.1200T= MANE Select NP_000017.1:p.His400=
NM_001363840.2:c.1200T= NP_001350769.1:p.His400=
NM_001123378.3:c.1191+523T= NP_001116850.1:n.1191+523T=
NM_001317923.2:c.1008T= NP_001304852.1:p.His336=
NM_001363840.3:c.1200T= NP_001350769.1:p.His400=
NR_134256.2:n.1290T=