Canonical Allele Identifier: CA414844434
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707993G>T , CM000686.2:g.19707993G>T GRCh38
NC_000024.9:g.21869879G>T , CM000686.1:g.21869879G>T GRCh37
NC_000024.8:g.20329267G>T NCBI36
NG_032920.1:g.41947C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3340C>A MANE Select ENSP00000322408.4:p.Gln1114Lys
ENST00000317961.8:c.3340C>A ENSP00000322408.4:p.Gln1114Lys
ENST00000382806.6:c.3169C>A ENSP00000372256.2:p.Gln1057Lys
ENST00000415360.1:c.256C>A ENSP00000389433.1:p.Gln86Lys
ENST00000440077.5:c.3217C>A ENSP00000398543.1:p.Gln1073Lys
ENST00000469599.6:n.1938C>A
ENST00000492117.1:n.3232C>A
ENST00000541639.5:c.3433C>A ENSP00000444293.1:p.Gln1145Lys
NM_001146705.1:c.3433C>A NP_001140177.1:p.Gln1145Lys
NM_001146706.1:c.3169C>A NP_001140178.1:p.Gln1057Lys
NM_004653.4:c.3340C>A NP_004644.2:p.Gln1114Lys
XM_005262560.1:c.3205C>A XP_005262617.1:p.Gln1069Lys
XM_005262561.1:c.3109C>A XP_005262618.1:p.Gln1037Lys
XM_011531468.1:c.3262C>A XP_011529770.1:p.Gln1088Lys
XR_244571.2:n.3628C>A
XR_430568.2:n.3962C>A
XM_005262560.3:c.3205C>A XP_005262617.1:p.Gln1069Lys
XM_005262561.3:c.3109C>A XP_005262618.1:p.Gln1037Lys
XM_011531468.3:c.3262C>A XP_011529770.1:p.Gln1088Lys
XM_024452495.1:c.1330C>A XP_024308263.1:p.Gln444Lys
XM_024452496.1:c.1096C>A XP_024308264.1:p.Gln366Lys
XR_001756009.2:n.4078C>A
XR_001756010.2:n.4078C>A
XR_001756011.2:n.3943C>A
XR_001756012.2:n.4091C>A
XR_001756013.2:n.3409C>A
XR_002958832.1:n.3510C>A
XR_002958834.1:n.3734C>A
XR_002958835.1:n.3617C>A
XR_002958836.1:n.4300C>A
XR_002958837.1:n.4107C>A
XR_244571.4:n.3627C>A
XR_430568.4:n.3961C>A
NM_001146706.2:c.3169C>A NP_001140178.1:p.Gln1057Lys
NM_004653.5:c.3340C>A MANE Select NP_004644.2:p.Gln1114Lys
NM_001146705.2:c.3433C>A NP_001140177.1:p.Gln1145Lys