Canonical Allele Identifier: CA2405724666
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40365076C= , CM000684.2:g.40365076C= GRCh38
NC_000022.10:g.40761080C= , CM000684.1:g.40761080C= GRCh37
NC_000022.9:g.39091026C= NCBI36
NG_007993.1:g.23577C=
NG_007993.2:g.23577C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*762+20C= ENSP00000485462.2:n.*762+20C=
ENST00000623287.4:c.*793+20C= ENSP00000485437.1:n.*793+20C=
ENST00000623632.4:c.1059+20C= ENSP00000485288.2:n.1059+20C=
ENST00000625194.4:c.1410+20C= ENSP00000485289.2:n.1410+20C=
ENST00000636433.1:n.1390+20C=
ENST00000636714.1:c.1368+20C= ENSP00000490946.1:n.1368+20C=
ENST00000637666.2:c.1191+711C= ENSP00000489696.2:n.1191+711C=
ENST00000637669.1:c.1368+20C= ENSP00000489728.1:n.1368+20C=
ENST00000639722.1:c.*1064+20C= ENSP00000492828.1:n.*1064+20C=
ENST00000674592.1:n.2882+20C=
ENST00000675622.1:n.4435+20C=
ENST00000679609.1:c.*978+20C= ENSP00000506592.1:n.*978+20C=
ENST00000679656.1:n.2053+20C=
ENST00000679723.1:c.1323+20C= ENSP00000505155.1:n.1323+20C=
ENST00000679845.1:n.1676+20C=
ENST00000679904.1:n.1764+20C=
ENST00000680378.1:c.1455+20C= ENSP00000505556.1:n.1455+20C=
ENST00000680444.1:c.*731+20C= ENSP00000505298.1:n.*731+20C=
ENST00000680978.1:c.1368+20C= ENSP00000505244.1:n.1368+20C=
ENST00000681003.1:n.831+20C=
ENST00000681159.1:n.2772+20C=
ENST00000216194.11:c.1410+20C= ENSP00000216194.8:n.1410+20C=
ENST00000342312.9:c.1191+711C= ENSP00000341429.6:n.1191+711C=
ENST00000423176.6:c.95+20C=
ENST00000498234.2:c.26+20C=
ENST00000623063.3:c.1368+20C= MANE Select ENSP00000485525.1:n.1368+20C=
ENST00000623387.1:n.499+20C=
ENST00000623869.3:c.99+20C= ENSP00000485211.1:n.99+20C=
ENST00000624027.1:c.95+20C=
ENST00000625194.3:c.997+20C=
NM_000026.2:c.1368+20C= NP_000017.1:n.1368+20C=
NM_001123378.1:c.1191+711C= NP_001116850.1:n.1191+711C=
XM_011529976.1:c.1368+20C= XP_011528278.1:n.1368+20C=
XM_011529977.1:c.1368+20C= XP_011528279.1:n.1368+20C=
XM_011529978.1:c.1191+711C= XP_011528280.1:n.1191+711C=
XM_011529979.1:c.1368+20C= XP_011528281.1:n.1368+20C=
XM_011529980.1:c.1191+711C= XP_011528282.1:n.1191+711C=
XM_011529981.1:c.903+20C= XP_011528283.1:n.903+20C=
XM_011529982.1:c.537+20C= XP_011528284.1:n.537+20C=
XR_937824.1:n.1458+20C=
XR_937825.1:n.1281+711C=
NM_000026.3:c.1368+20C= NP_000017.1:n.1368+20C=
NM_001123378.2:c.1191+711C= NP_001116850.1:n.1191+711C=
NM_001317923.1:c.1176+20C= NP_001304852.1:n.1176+20C=
NM_001363840.1:c.1368+20C= NP_001350769.1:n.1368+20C=
NR_134256.1:n.1458+20C=
XM_011529977.3:c.1368+20C= XP_011528279.1:n.1368+20C=
XM_011529980.3:c.1191+711C= XP_011528282.1:n.1191+711C=
XM_017028636.1:c.1323+20C= XP_016884125.1:n.1323+20C=
XM_017028637.1:c.1323+20C= XP_016884126.1:n.1323+20C=
XM_017028638.1:c.903+20C= XP_016884127.1:n.903+20C=
XM_017028639.2:c.903+20C= XP_016884128.1:n.903+20C=
XM_017028640.1:c.537+20C= XP_016884129.1:n.537+20C=
XM_024452166.1:c.1146+711C= XP_024307934.1:n.1146+711C=
XR_001755176.2:n.1610+20C=
XR_002958670.1:n.1395+20C=
XR_937825.3:n.1279+711C=
NM_000026.4:c.1368+20C= MANE Select NP_000017.1:n.1368+20C=
NM_001363840.2:c.1368+20C= NP_001350769.1:n.1368+20C=
NM_001123378.3:c.1191+711C= NP_001116850.1:n.1191+711C=
NM_001317923.2:c.1176+20C= NP_001304852.1:n.1176+20C=
NM_001363840.3:c.1368+20C= NP_001350769.1:n.1368+20C=
NR_134256.2:n.1458+20C=