Canonical Allele Identifier: CA414843680
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707583T>G , CM000686.2:g.19707583T>G GRCh38
NC_000024.9:g.21869469T>G , CM000686.1:g.21869469T>G GRCh37
NC_000024.8:g.20328857T>G NCBI36
NG_032920.1:g.42357A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3563A>C MANE Select ENSP00000322408.4:p.Gln1188Pro
ENST00000317961.8:c.3563A>C ENSP00000322408.4:p.Gln1188Pro
ENST00000382806.6:c.3392A>C ENSP00000372256.2:p.Gln1131Pro
ENST00000415360.1:c.479A>C ENSP00000389433.1:p.Gln160Pro
ENST00000440077.5:c.3440A>C ENSP00000398543.1:p.Gln1147Pro
ENST00000469599.6:n.2161A>C
ENST00000492117.1:n.3455A>C
ENST00000541639.5:c.3656A>C ENSP00000444293.1:p.Gln1219Pro
NM_001146705.1:c.3656A>C NP_001140177.1:p.Gln1219Pro
NM_001146706.1:c.3392A>C NP_001140178.1:p.Gln1131Pro
NM_004653.4:c.3563A>C NP_004644.2:p.Gln1188Pro
XM_005262560.1:c.3428A>C XP_005262617.1:p.Gln1143Pro
XM_005262561.1:c.3332A>C XP_005262618.1:p.Gln1111Pro
XM_011531468.1:c.3485A>C XP_011529770.1:p.Gln1162Pro
XR_244571.2:n.3851A>C
XR_430568.2:n.4185A>C
XM_005262560.3:c.3428A>C XP_005262617.1:p.Gln1143Pro
XM_005262561.3:c.3332A>C XP_005262618.1:p.Gln1111Pro
XM_011531468.3:c.3485A>C XP_011529770.1:p.Gln1162Pro
XM_024452495.1:c.1553A>C XP_024308263.1:p.Gln518Pro
XM_024452496.1:c.1319A>C XP_024308264.1:p.Gln440Pro
XR_001756009.2:n.4301A>C
XR_001756010.2:n.4301A>C
XR_001756011.2:n.4166A>C
XR_001756012.2:n.4314A>C
XR_001756013.2:n.3632A>C
XR_002958832.1:n.3733A>C
XR_002958834.1:n.3957A>C
XR_002958835.1:n.3840A>C
XR_002958836.1:n.4523A>C
XR_002958837.1:n.4330A>C
XR_244571.4:n.3850A>C
XR_430568.4:n.4184A>C
NM_001146706.2:c.3392A>C NP_001140178.1:p.Gln1131Pro
NM_004653.5:c.3563A>C MANE Select NP_004644.2:p.Gln1188Pro
NM_001146705.2:c.3656A>C NP_001140177.1:p.Gln1219Pro