Canonical Allele Identifier: CA2766253081
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19705715C>T , CM000686.2:g.19705715C>T GRCh38
NC_000024.9:g.21867601C>T , CM000686.1:g.21867601C>T GRCh37
NC_000024.8:g.20326989C>T NCBI36
NG_032920.1:g.44225G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.*280G>A MANE Select ENSP00000322408.4:n.*280G>A
ENST00000317961.8:c.*280G>A ENSP00000322408.4:n.*280G>A
ENST00000382806.6:c.*280G>A ENSP00000372256.2:n.*280G>A
ENST00000469599.6:n.3651G>A
ENST00000492117.1:n.4945G>A
ENST00000541639.5:c.*280G>A ENSP00000444293.1:n.*280G>A
NM_001146705.1:c.*280G>A NP_001140177.1:n.*280G>A
NM_001146706.1:c.*280G>A NP_001140178.1:n.*280G>A
NM_004653.4:c.*280G>A NP_004644.2:n.*280G>A
XM_005262560.1:c.*280G>A XP_005262617.1:n.*280G>A
XM_005262561.1:c.*280G>A XP_005262618.1:n.*280G>A
XM_011531468.1:c.*280G>A XP_011529770.1:n.*280G>A
XR_430568.2:n.5675G>A
XM_005262560.3:c.*280G>A XP_005262617.1:n.*280G>A
XM_005262561.3:c.*280G>A XP_005262618.1:n.*280G>A
XM_011531468.3:c.*280G>A XP_011529770.1:n.*280G>A
XM_024452495.1:c.*280G>A XP_024308263.1:n.*280G>A
XM_024452496.1:c.*280G>A XP_024308264.1:n.*280G>A
XR_001756009.2:n.5638G>A
XR_001756010.2:n.5606G>A
XR_001756011.2:n.5503G>A
XR_001756012.2:n.5651G>A
XR_001756013.2:n.4969G>A
XR_002958832.1:n.5223G>A
XR_002958834.1:n.5294G>A
XR_002958835.1:n.5177G>A
XR_002958836.1:n.5828G>A
XR_002958837.1:n.5635G>A
XR_244571.4:n.5155G>A
XR_430568.4:n.5674G>A
NM_001146706.2:c.*280G>A NP_001140178.1:n.*280G>A
NM_004653.5:c.*280G>A MANE Select NP_004644.2:n.*280G>A
NM_001146705.2:c.*280G>A NP_001140177.1:n.*280G>A