Canonical Allele Identifier: CA414844340
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707966A>T , CM000686.2:g.19707966A>T GRCh38
NC_000024.9:g.21869852A>T , CM000686.1:g.21869852A>T GRCh37
NC_000024.8:g.20329240A>T NCBI36
NG_032920.1:g.41974T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3367T>A MANE Select ENSP00000322408.4:p.Ser1123Thr
ENST00000317961.8:c.3367T>A ENSP00000322408.4:p.Ser1123Thr
ENST00000382806.6:c.3196T>A ENSP00000372256.2:p.Ser1066Thr
ENST00000415360.1:c.283T>A ENSP00000389433.1:p.Ser95Thr
ENST00000440077.5:c.3244T>A ENSP00000398543.1:p.Ser1082Thr
ENST00000469599.6:n.1965T>A
ENST00000492117.1:n.3259T>A
ENST00000541639.5:c.3460T>A ENSP00000444293.1:p.Ser1154Thr
NM_001146705.1:c.3460T>A NP_001140177.1:p.Ser1154Thr
NM_001146706.1:c.3196T>A NP_001140178.1:p.Ser1066Thr
NM_004653.4:c.3367T>A NP_004644.2:p.Ser1123Thr
XM_005262560.1:c.3232T>A XP_005262617.1:p.Ser1078Thr
XM_005262561.1:c.3136T>A XP_005262618.1:p.Ser1046Thr
XM_011531468.1:c.3289T>A XP_011529770.1:p.Ser1097Thr
XR_244571.2:n.3655T>A
XR_430568.2:n.3989T>A
XM_005262560.3:c.3232T>A XP_005262617.1:p.Ser1078Thr
XM_005262561.3:c.3136T>A XP_005262618.1:p.Ser1046Thr
XM_011531468.3:c.3289T>A XP_011529770.1:p.Ser1097Thr
XM_024452495.1:c.1357T>A XP_024308263.1:p.Ser453Thr
XM_024452496.1:c.1123T>A XP_024308264.1:p.Ser375Thr
XR_001756009.2:n.4105T>A
XR_001756010.2:n.4105T>A
XR_001756011.2:n.3970T>A
XR_001756012.2:n.4118T>A
XR_001756013.2:n.3436T>A
XR_002958832.1:n.3537T>A
XR_002958834.1:n.3761T>A
XR_002958835.1:n.3644T>A
XR_002958836.1:n.4327T>A
XR_002958837.1:n.4134T>A
XR_244571.4:n.3654T>A
XR_430568.4:n.3988T>A
NM_001146706.2:c.3196T>A NP_001140178.1:p.Ser1066Thr
NM_004653.5:c.3367T>A MANE Select NP_004644.2:p.Ser1123Thr
NM_001146705.2:c.3460T>A NP_001140177.1:p.Ser1154Thr