Canonical Allele Identifier: CA2405724642
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40365037C= , CM000684.2:g.40365037C= GRCh38
NC_000022.10:g.40761041C= , CM000684.1:g.40761041C= GRCh37
NC_000022.9:g.39090987C= NCBI36
NG_007993.1:g.23538C=
NG_007993.2:g.23538C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*743C= ENSP00000485462.2:n.*743C=
ENST00000623287.4:c.*774C= ENSP00000485437.1:n.*774C=
ENST00000623632.4:c.1040C= ENSP00000485288.2:p.Thr347=
ENST00000625194.4:c.1391C= ENSP00000485289.2:p.Thr464=
ENST00000636433.1:n.1371C=
ENST00000636714.1:c.1349C= ENSP00000490946.1:p.Thr450=
ENST00000637666.2:c.1191+672C= ENSP00000489696.2:n.1191+672C=
ENST00000637669.1:c.1349C= ENSP00000489728.1:p.Thr450=
ENST00000639722.1:c.*1045C= ENSP00000492828.1:n.*1045C=
ENST00000674592.1:n.2863C=
ENST00000675622.1:n.4416C=
ENST00000679609.1:c.*959C= ENSP00000506592.1:n.*959C=
ENST00000679656.1:n.2034C=
ENST00000679723.1:c.1304C= ENSP00000505155.1:p.Thr435=
ENST00000679845.1:n.1657C=
ENST00000679904.1:n.1745C=
ENST00000680378.1:c.1436C= ENSP00000505556.1:p.Thr479=
ENST00000680444.1:c.*712C= ENSP00000505298.1:n.*712C=
ENST00000680978.1:c.1349C= ENSP00000505244.1:p.Thr450=
ENST00000681003.1:n.812C=
ENST00000681159.1:n.2753C=
ENST00000216194.11:c.1391C= ENSP00000216194.8:p.Thr464=
ENST00000342312.9:c.1191+672C= ENSP00000341429.6:n.1191+672C=
ENST00000423176.6:c.76C=
ENST00000498234.2:c.7C=
ENST00000623063.3:c.1349C= MANE Select ENSP00000485525.1:p.Thr450=
ENST00000623387.1:n.480C=
ENST00000623869.3:c.80C= ENSP00000485211.1:p.Thr27=
ENST00000624027.1:c.76C=
ENST00000625194.3:c.978C=
NM_000026.2:c.1349C= NP_000017.1:p.Thr450=
NM_001123378.1:c.1191+672C= NP_001116850.1:n.1191+672C=
XM_011529976.1:c.1349C= XP_011528278.1:p.Thr450=
XM_011529977.1:c.1349C= XP_011528279.1:p.Thr450=
XM_011529978.1:c.1191+672C= XP_011528280.1:n.1191+672C=
XM_011529979.1:c.1349C= XP_011528281.1:p.Thr450=
XM_011529980.1:c.1191+672C= XP_011528282.1:n.1191+672C=
XM_011529981.1:c.884C= XP_011528283.1:p.Thr295=
XM_011529982.1:c.518C= XP_011528284.1:p.Thr173=
XR_937824.1:n.1439C=
XR_937825.1:n.1281+672C=
NM_000026.3:c.1349C= NP_000017.1:p.Thr450=
NM_001123378.2:c.1191+672C= NP_001116850.1:n.1191+672C=
NM_001317923.1:c.1157C= NP_001304852.1:p.Thr386=
NM_001363840.1:c.1349C= NP_001350769.1:p.Thr450=
NR_134256.1:n.1439C=
XM_011529977.3:c.1349C= XP_011528279.1:p.Thr450=
XM_011529980.3:c.1191+672C= XP_011528282.1:n.1191+672C=
XM_017028636.1:c.1304C= XP_016884125.1:p.Thr435=
XM_017028637.1:c.1304C= XP_016884126.1:p.Thr435=
XM_017028638.1:c.884C= XP_016884127.1:p.Thr295=
XM_017028639.2:c.884C= XP_016884128.1:p.Thr295=
XM_017028640.1:c.518C= XP_016884129.1:p.Thr173=
XM_024452166.1:c.1146+672C= XP_024307934.1:n.1146+672C=
XR_001755176.2:n.1591C=
XR_002958670.1:n.1376C=
XR_937825.3:n.1279+672C=
NM_000026.4:c.1349C= MANE Select NP_000017.1:p.Thr450=
NM_001363840.2:c.1349C= NP_001350769.1:p.Thr450=
NM_001123378.3:c.1191+672C= NP_001116850.1:n.1191+672C=
NM_001317923.2:c.1157C= NP_001304852.1:p.Thr386=
NM_001363840.3:c.1349C= NP_001350769.1:p.Thr450=
NR_134256.2:n.1439C=