Canonical Allele Identifier: CA414842017
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706837G>T , CM000686.2:g.19706837G>T GRCh38
NC_000024.9:g.21868723G>T , CM000686.1:g.21868723G>T GRCh37
NC_000024.8:g.20328111G>T NCBI36
NG_032920.1:g.43103C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4026C>A MANE Select ENSP00000322408.4:p.Asp1342Glu
ENST00000317961.8:c.4026C>A ENSP00000322408.4:p.Asp1342Glu
ENST00000382806.6:c.3855C>A ENSP00000372256.2:p.Asp1285Glu
ENST00000440077.5:c.3903C>A ENSP00000398543.1:p.Asp1301Glu
ENST00000469599.6:n.2624C>A
ENST00000492117.1:n.3918C>A
ENST00000541639.5:c.4119C>A ENSP00000444293.1:p.Asp1373Glu
NM_001146705.1:c.4119C>A NP_001140177.1:p.Asp1373Glu
NM_001146706.1:c.3855C>A NP_001140178.1:p.Asp1285Glu
NM_004653.4:c.4026C>A NP_004644.2:p.Asp1342Glu
XM_005262560.1:c.3891C>A XP_005262617.1:p.Asp1297Glu
XM_005262561.1:c.3795C>A XP_005262618.1:p.Asp1265Glu
XM_011531468.1:c.3948C>A XP_011529770.1:p.Asp1316Glu
XR_244571.2:n.4314C>A
XR_430568.2:n.4648C>A
XM_005262560.3:c.3891C>A XP_005262617.1:p.Asp1297Glu
XM_005262561.3:c.3795C>A XP_005262618.1:p.Asp1265Glu
XM_011531468.3:c.3948C>A XP_011529770.1:p.Asp1316Glu
XM_024452495.1:c.2016C>A XP_024308263.1:p.Asp672Glu
XM_024452496.1:c.1782C>A XP_024308264.1:p.Asp594Glu
XR_001756009.2:n.4764C>A
XR_001756010.2:n.4764C>A
XR_001756011.2:n.4629C>A
XR_001756012.2:n.4777C>A
XR_001756013.2:n.4095C>A
XR_002958832.1:n.4196C>A
XR_002958834.1:n.4420C>A
XR_002958835.1:n.4303C>A
XR_002958836.1:n.4986C>A
XR_002958837.1:n.4793C>A
XR_244571.4:n.4313C>A
XR_430568.4:n.4647C>A
NM_001146706.2:c.3855C>A NP_001140178.1:p.Asp1285Glu
NM_004653.5:c.4026C>A MANE Select NP_004644.2:p.Asp1342Glu
NM_001146705.2:c.4119C>A NP_001140177.1:p.Asp1373Glu