Canonical Allele Identifier: CA414843465
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707531A>C , CM000686.2:g.19707531A>C GRCh38
NC_000024.9:g.21869417A>C , CM000686.1:g.21869417A>C GRCh37
NC_000024.8:g.20328805A>C NCBI36
NG_032920.1:g.42409T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3615T>G MANE Select ENSP00000322408.4:p.His1205Gln
ENST00000317961.8:c.3615T>G ENSP00000322408.4:p.His1205Gln
ENST00000382806.6:c.3444T>G ENSP00000372256.2:p.His1148Gln
ENST00000415360.1:c.531T>G ENSP00000389433.1:p.His177Gln
ENST00000440077.5:c.3492T>G ENSP00000398543.1:p.His1164Gln
ENST00000469599.6:n.2213T>G
ENST00000492117.1:n.3507T>G
ENST00000541639.5:c.3708T>G ENSP00000444293.1:p.His1236Gln
NM_001146705.1:c.3708T>G NP_001140177.1:p.His1236Gln
NM_001146706.1:c.3444T>G NP_001140178.1:p.His1148Gln
NM_004653.4:c.3615T>G NP_004644.2:p.His1205Gln
XM_005262560.1:c.3480T>G XP_005262617.1:p.His1160Gln
XM_005262561.1:c.3384T>G XP_005262618.1:p.His1128Gln
XM_011531468.1:c.3537T>G XP_011529770.1:p.His1179Gln
XR_244571.2:n.3903T>G
XR_430568.2:n.4237T>G
XM_005262560.3:c.3480T>G XP_005262617.1:p.His1160Gln
XM_005262561.3:c.3384T>G XP_005262618.1:p.His1128Gln
XM_011531468.3:c.3537T>G XP_011529770.1:p.His1179Gln
XM_024452495.1:c.1605T>G XP_024308263.1:p.His535Gln
XM_024452496.1:c.1371T>G XP_024308264.1:p.His457Gln
XR_001756009.2:n.4353T>G
XR_001756010.2:n.4353T>G
XR_001756011.2:n.4218T>G
XR_001756012.2:n.4366T>G
XR_001756013.2:n.3684T>G
XR_002958832.1:n.3785T>G
XR_002958834.1:n.4009T>G
XR_002958835.1:n.3892T>G
XR_002958836.1:n.4575T>G
XR_002958837.1:n.4382T>G
XR_244571.4:n.3902T>G
XR_430568.4:n.4236T>G
NM_001146706.2:c.3444T>G NP_001140178.1:p.His1148Gln
NM_004653.5:c.3615T>G MANE Select NP_004644.2:p.His1205Gln
NM_001146705.2:c.3708T>G NP_001140177.1:p.His1236Gln