Canonical Allele Identifier: CA411632688
Community Standard Title: NM_000026.4(ADSL):c.69C>G (p.Ser23Arg)
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40346627C>G , CM000684.2:g.40346627C>G GRCh38
NC_000022.10:g.40742631C>G , CM000684.1:g.40742631C>G GRCh37
NC_000022.9:g.39072577C>G NCBI36
NG_007993.1:g.5128C>G
NG_007993.2:g.5128C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000026.4:c.69C>G MANE Select NP_000017.1:p.Ser23Arg
ENST00000623063.3:c.69C>G MANE Select ENSP00000485525.1:p.Ser23Arg
NM_000026.2:c.69C>G NP_000017.1:p.Ser23Arg
NM_000026.3:c.69C>G NP_000017.1:p.Ser23Arg
NM_001123378.1:c.69C>G NP_001116850.1:p.Ser23Arg
NM_001123378.2:c.69C>G NP_001116850.1:p.Ser23Arg
NM_001123378.3:c.69C>G NP_001116850.1:p.Ser23Arg
NM_001317923.1:c.-69C>G NP_001304852.1:n.-69C>G
NM_001317923.2:c.-69C>G NP_001304852.1:n.-69C>G
NM_001363840.1:c.69C>G NP_001350769.1:p.Ser23Arg
NM_001363840.2:c.69C>G NP_001350769.1:p.Ser23Arg
NM_001363840.3:c.69C>G NP_001350769.1:p.Ser23Arg
NR_134256.1:n.128C>G
NR_134256.2:n.128C>G
ENST00000216194.11:c.69C>G ENSP00000216194.8:p.Ser23Arg
ENST00000342312.9:c.69C>G ENSP00000341429.6:p.Ser23Arg
ENST00000466863.1:n.110C>G
ENST00000477111.2:n.99C>G
ENST00000480775.3:c.69C>G ENSP00000485462.2:p.Ser23Arg
ENST00000623287.3:c.69C>G ENSP00000485437.1:p.Ser23Arg
ENST00000623287.4:c.69C>G ENSP00000485437.1:p.Ser23Arg
ENST00000623632.3:c.69C>G ENSP00000485288.1:p.Ser23Arg
ENST00000623632.4:c.69C>G ENSP00000485288.2:p.Ser23Arg
ENST00000623978.3:c.-213C>G ENSP00000485477.1:n.-213C>G
ENST00000624474.1:c.69C>G ENSP00000485286.1:p.Ser23Arg
ENST00000624503.1:c.69C>G ENSP00000485073.1:p.Ser23Arg
ENST00000625194.4:c.69C>G ENSP00000485289.2:p.Ser23Arg
ENST00000636265.1:c.69C>G ENSP00000490909.1:p.Ser23Arg
ENST00000636714.1:c.69C>G ENSP00000490946.1:p.Ser23Arg
ENST00000637666.2:c.69C>G ENSP00000489696.2:p.Ser23Arg
ENST00000637669.1:c.69C>G ENSP00000489728.1:p.Ser23Arg
ENST00000639722.1:c.69C>G ENSP00000492828.1:p.Ser23Arg
ENST00000675622.1:n.99C>G
ENST00000679609.1:c.69C>G ENSP00000506592.1:p.Ser23Arg
ENST00000679656.1:n.99C>G
ENST00000679723.1:c.69C>G ENSP00000505155.1:p.Ser23Arg
ENST00000680378.1:c.69C>G ENSP00000505556.1:p.Ser23Arg
ENST00000680444.1:c.69C>G ENSP00000505298.1:p.Ser23Arg
ENST00000680978.1:c.69C>G ENSP00000505244.1:p.Ser23Arg
ENST00000681159.1:n.128C>G
XM_011529976.1:c.69C>G XP_011528278.1:p.Ser23Arg
XM_011529977.1:c.69C>G XP_011528279.1:p.Ser23Arg
XM_011529977.3:c.69C>G XP_011528279.1:p.Ser23Arg
XM_011529978.1:c.69C>G XP_011528280.1:p.Ser23Arg
XM_011529979.1:c.69C>G XP_011528281.1:p.Ser23Arg
XM_011529980.1:c.69C>G XP_011528282.1:p.Ser23Arg
XM_011529980.3:c.69C>G XP_011528282.1:p.Ser23Arg
XM_011529981.1:c.-272C>G XP_011528283.1:n.-272C>G
XM_017028636.1:c.69C>G XP_016884125.1:p.Ser23Arg
XM_017028637.1:c.69C>G XP_016884126.1:p.Ser23Arg
XM_017028638.1:c.-272C>G XP_016884127.1:n.-272C>G
XM_017028639.2:c.-272C>G XP_016884128.1:n.-272C>G
XM_024452166.1:c.69C>G XP_024307934.1:p.Ser23Arg
XR_001755176.2:n.126C>G
XR_002958670.1:n.110C>G
XR_002958671.1:n.126C>G
XR_937824.1:n.128C>G
XR_937825.1:n.128C>G
XR_937825.3:n.126C>G
XR_937826.1:n.128C>G