Canonical Allele Identifier: CA2405724628
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40365003C= , CM000684.2:g.40365003C= GRCh38
NC_000022.10:g.40761007C= , CM000684.1:g.40761007C= GRCh37
NC_000022.9:g.39090953C= NCBI36
NG_007993.1:g.23504C=
NG_007993.2:g.23504C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*709C= ENSP00000485462.2:n.*709C=
ENST00000623287.4:c.*740C= ENSP00000485437.1:n.*740C=
ENST00000623632.4:c.1006C= ENSP00000485288.2:p.Gln336=
ENST00000625194.4:c.1357C= ENSP00000485289.2:p.Gln453=
ENST00000636433.1:n.1337C=
ENST00000636714.1:c.1315C= ENSP00000490946.1:p.Gln439=
ENST00000637666.2:c.1191+638C= ENSP00000489696.2:n.1191+638C=
ENST00000637669.1:c.1315C= ENSP00000489728.1:p.Gln439=
ENST00000639722.1:c.*1011C= ENSP00000492828.1:n.*1011C=
ENST00000674592.1:n.2829C=
ENST00000675622.1:n.4382C=
ENST00000679609.1:c.*925C= ENSP00000506592.1:n.*925C=
ENST00000679656.1:n.2000C=
ENST00000679723.1:c.1270C= ENSP00000505155.1:p.Gln424=
ENST00000679845.1:n.1623C=
ENST00000679904.1:n.1711C=
ENST00000680378.1:c.1402C= ENSP00000505556.1:p.Gln468=
ENST00000680444.1:c.*678C= ENSP00000505298.1:n.*678C=
ENST00000680978.1:c.1315C= ENSP00000505244.1:p.Gln439=
ENST00000681003.1:n.778C=
ENST00000681159.1:n.2719C=
ENST00000216194.11:c.1357C= ENSP00000216194.8:p.Gln453=
ENST00000342312.9:c.1191+638C= ENSP00000341429.6:n.1191+638C=
ENST00000423176.6:c.42C=
ENST00000623063.3:c.1315C= MANE Select ENSP00000485525.1:p.Gln439=
ENST00000623387.1:n.446C=
ENST00000623869.3:c.46C= ENSP00000485211.1:p.Gln16=
ENST00000624027.1:c.42C=
ENST00000625194.3:c.944C=
NM_000026.2:c.1315C= NP_000017.1:p.Gln439=
NM_001123378.1:c.1191+638C= NP_001116850.1:n.1191+638C=
XM_011529976.1:c.1315C= XP_011528278.1:p.Gln439=
XM_011529977.1:c.1315C= XP_011528279.1:p.Gln439=
XM_011529978.1:c.1191+638C= XP_011528280.1:n.1191+638C=
XM_011529979.1:c.1315C= XP_011528281.1:p.Gln439=
XM_011529980.1:c.1191+638C= XP_011528282.1:n.1191+638C=
XM_011529981.1:c.850C= XP_011528283.1:p.Gln284=
XM_011529982.1:c.484C= XP_011528284.1:p.Gln162=
XR_937824.1:n.1405C=
XR_937825.1:n.1281+638C=
NM_000026.3:c.1315C= NP_000017.1:p.Gln439=
NM_001123378.2:c.1191+638C= NP_001116850.1:n.1191+638C=
NM_001317923.1:c.1123C= NP_001304852.1:p.Gln375=
NM_001363840.1:c.1315C= NP_001350769.1:p.Gln439=
NR_134256.1:n.1405C=
XM_011529977.3:c.1315C= XP_011528279.1:p.Gln439=
XM_011529980.3:c.1191+638C= XP_011528282.1:n.1191+638C=
XM_017028636.1:c.1270C= XP_016884125.1:p.Gln424=
XM_017028637.1:c.1270C= XP_016884126.1:p.Gln424=
XM_017028638.1:c.850C= XP_016884127.1:p.Gln284=
XM_017028639.2:c.850C= XP_016884128.1:p.Gln284=
XM_017028640.1:c.484C= XP_016884129.1:p.Gln162=
XM_024452166.1:c.1146+638C= XP_024307934.1:n.1146+638C=
XR_001755176.2:n.1557C=
XR_002958670.1:n.1342C=
XR_937825.3:n.1279+638C=
NM_000026.4:c.1315C= MANE Select NP_000017.1:p.Gln439=
NM_001363840.2:c.1315C= NP_001350769.1:p.Gln439=
NM_001123378.3:c.1191+638C= NP_001116850.1:n.1191+638C=
NM_001317923.2:c.1123C= NP_001304852.1:p.Gln375=
NM_001363840.3:c.1315C= NP_001350769.1:p.Gln439=
NR_134256.2:n.1405C=