Canonical Allele Identifier: CA2405725285
Community Standard Title: NM_000026.4(ADSL):c.1400C= (p.Pro467=)
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40366467C= , CM000684.2:g.40366467C= GRCh38
NC_000022.10:g.40762471C= , CM000684.1:g.40762471C= GRCh37
NC_000022.9:g.39092417C= NCBI36
NG_007993.1:g.24968C=
NG_007993.2:g.24968C=

Transcript Alleles

HGVS Amino-acid Change
NM_000026.4:c.1400C= MANE Select NP_000017.1:p.Pro467=
ENST00000623063.3:c.1400C= MANE Select ENSP00000485525.1:p.Pro467=
NM_000026.2:c.1400C= NP_000017.1:p.Pro467=
NM_000026.3:c.1400C= NP_000017.1:p.Pro467=
NM_001123378.1:c.1223C= NP_001116850.1:p.Pro408=
NM_001123378.2:c.1223C= NP_001116850.1:p.Pro408=
NM_001123378.3:c.1223C= NP_001116850.1:p.Pro408=
NM_001317923.1:c.1208C= NP_001304852.1:p.Pro403=
NM_001317923.2:c.1208C= NP_001304852.1:p.Pro403=
NM_001363840.1:c.1400C= NP_001350769.1:p.Pro467=
NM_001363840.2:c.1400C= NP_001350769.1:p.Pro467=
NM_001363840.3:c.1400C= NP_001350769.1:p.Pro467=
NR_134256.1:n.1490C=
NR_134256.2:n.1490C=
ENST00000216194.11:c.1442C= ENSP00000216194.8:p.Pro481=
ENST00000342312.9:c.1223C= ENSP00000341429.6:p.Pro408=
ENST00000423176.6:c.127C=
ENST00000480775.3:c.*794C= ENSP00000485462.2:n.*794C=
ENST00000498234.2:c.58C=
ENST00000623287.4:c.*825C= ENSP00000485437.1:n.*825C=
ENST00000623387.1:n.531C=
ENST00000623632.4:c.1091C= ENSP00000485288.2:p.Pro364=
ENST00000623869.3:c.131C= ENSP00000485211.1:p.Pro44=
ENST00000624027.1:c.96-1002C=
ENST00000625194.3:c.1029C=
ENST00000625194.4:c.1442C= ENSP00000485289.2:p.Pro481=
ENST00000636433.1:n.1422C=
ENST00000636714.1:c.1400C= ENSP00000490946.1:p.Pro467=
ENST00000637666.2:c.1223C= ENSP00000489696.2:p.Pro408=
ENST00000637669.1:c.1400C= ENSP00000489728.1:p.Pro467=
ENST00000639722.1:c.*1096C= ENSP00000492828.1:n.*1096C=
ENST00000674592.1:n.2914C=
ENST00000675622.1:n.4467C=
ENST00000679609.1:c.*1010C= ENSP00000506592.1:n.*1010C=
ENST00000679656.1:n.2085C=
ENST00000679723.1:c.1355C= ENSP00000505155.1:p.Pro452=
ENST00000679845.1:n.1708C=
ENST00000679904.1:n.1796C=
ENST00000680378.1:c.1487C= ENSP00000505556.1:p.Pro496=
ENST00000680444.1:c.*763C= ENSP00000505298.1:n.*763C=
ENST00000680978.1:c.1400C= ENSP00000505244.1:p.Pro467=
ENST00000681003.1:n.863C=
ENST00000681159.1:n.2804C=
XM_011529976.1:c.1400C= XP_011528278.1:p.Pro467=
XM_011529977.1:c.1400C= XP_011528279.1:p.Pro467=
XM_011529977.3:c.1400C= XP_011528279.1:p.Pro467=
XM_011529978.1:c.1223C= XP_011528280.1:p.Pro408=
XM_011529979.1:c.1400C= XP_011528281.1:p.Pro467=
XM_011529980.1:c.1223C= XP_011528282.1:p.Pro408=
XM_011529980.3:c.1223C= XP_011528282.1:p.Pro408=
XM_011529981.1:c.935C= XP_011528283.1:p.Pro312=
XM_011529982.1:c.569C= XP_011528284.1:p.Pro190=
XM_017028636.1:c.1355C= XP_016884125.1:p.Pro452=
XM_017028637.1:c.1355C= XP_016884126.1:p.Pro452=
XM_017028638.1:c.935C= XP_016884127.1:p.Pro312=
XM_017028639.2:c.935C= XP_016884128.1:p.Pro312=
XM_017028640.1:c.569C= XP_016884129.1:p.Pro190=
XM_024452166.1:c.1178C= XP_024307934.1:p.Pro393=
XR_001755176.2:n.1642C=
XR_002958670.1:n.1427C=
XR_937824.1:n.1490C=
XR_937825.1:n.1313C=
XR_937825.3:n.1311C=