Canonical Allele Identifier: CA414843285
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707478C>T , CM000686.2:g.19707478C>T GRCh38
NC_000024.9:g.21869364C>T , CM000686.1:g.21869364C>T GRCh37
NC_000024.8:g.20328752C>T NCBI36
NG_032920.1:g.42462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3668G>A MANE Select ENSP00000322408.4:p.Trp1223Ter
ENST00000317961.8:c.3668G>A ENSP00000322408.4:p.Trp1223Ter
ENST00000382806.6:c.3497G>A ENSP00000372256.2:p.Trp1166Ter
ENST00000415360.1:c.584G>A ENSP00000389433.1:p.Trp195Ter
ENST00000440077.5:c.3545G>A ENSP00000398543.1:p.Trp1182Ter
ENST00000469599.6:n.2266G>A
ENST00000492117.1:n.3560G>A
ENST00000541639.5:c.3761G>A ENSP00000444293.1:p.Trp1254Ter
NM_001146705.1:c.3761G>A NP_001140177.1:p.Trp1254Ter
NM_001146706.1:c.3497G>A NP_001140178.1:p.Trp1166Ter
NM_004653.4:c.3668G>A NP_004644.2:p.Trp1223Ter
XM_005262560.1:c.3533G>A XP_005262617.1:p.Trp1178Ter
XM_005262561.1:c.3437G>A XP_005262618.1:p.Trp1146Ter
XM_011531468.1:c.3590G>A XP_011529770.1:p.Trp1197Ter
XR_244571.2:n.3956G>A
XR_430568.2:n.4290G>A
XM_005262560.3:c.3533G>A XP_005262617.1:p.Trp1178Ter
XM_005262561.3:c.3437G>A XP_005262618.1:p.Trp1146Ter
XM_011531468.3:c.3590G>A XP_011529770.1:p.Trp1197Ter
XM_024452495.1:c.1658G>A XP_024308263.1:p.Trp553Ter
XM_024452496.1:c.1424G>A XP_024308264.1:p.Trp475Ter
XR_001756009.2:n.4406G>A
XR_001756010.2:n.4406G>A
XR_001756011.2:n.4271G>A
XR_001756012.2:n.4419G>A
XR_001756013.2:n.3737G>A
XR_002958832.1:n.3838G>A
XR_002958834.1:n.4062G>A
XR_002958835.1:n.3945G>A
XR_002958836.1:n.4628G>A
XR_002958837.1:n.4435G>A
XR_244571.4:n.3955G>A
XR_430568.4:n.4289G>A
NM_001146706.2:c.3497G>A NP_001140178.1:p.Trp1166Ter
NM_004653.5:c.3668G>A MANE Select NP_004644.2:p.Trp1223Ter
NM_001146705.2:c.3761G>A NP_001140177.1:p.Trp1254Ter