Canonical Allele Identifier: CA414843586
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707562C>T , CM000686.2:g.19707562C>T GRCh38
NC_000024.9:g.21869448C>T , CM000686.1:g.21869448C>T GRCh37
NC_000024.8:g.20328836C>T NCBI36
NG_032920.1:g.42378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3584G>A MANE Select ENSP00000322408.4:p.Trp1195Ter
ENST00000317961.8:c.3584G>A ENSP00000322408.4:p.Trp1195Ter
ENST00000382806.6:c.3413G>A ENSP00000372256.2:p.Trp1138Ter
ENST00000415360.1:c.500G>A ENSP00000389433.1:p.Trp167Ter
ENST00000440077.5:c.3461G>A ENSP00000398543.1:p.Trp1154Ter
ENST00000469599.6:n.2182G>A
ENST00000492117.1:n.3476G>A
ENST00000541639.5:c.3677G>A ENSP00000444293.1:p.Trp1226Ter
NM_001146705.1:c.3677G>A NP_001140177.1:p.Trp1226Ter
NM_001146706.1:c.3413G>A NP_001140178.1:p.Trp1138Ter
NM_004653.4:c.3584G>A NP_004644.2:p.Trp1195Ter
XM_005262560.1:c.3449G>A XP_005262617.1:p.Trp1150Ter
XM_005262561.1:c.3353G>A XP_005262618.1:p.Trp1118Ter
XM_011531468.1:c.3506G>A XP_011529770.1:p.Trp1169Ter
XR_244571.2:n.3872G>A
XR_430568.2:n.4206G>A
XM_005262560.3:c.3449G>A XP_005262617.1:p.Trp1150Ter
XM_005262561.3:c.3353G>A XP_005262618.1:p.Trp1118Ter
XM_011531468.3:c.3506G>A XP_011529770.1:p.Trp1169Ter
XM_024452495.1:c.1574G>A XP_024308263.1:p.Trp525Ter
XM_024452496.1:c.1340G>A XP_024308264.1:p.Trp447Ter
XR_001756009.2:n.4322G>A
XR_001756010.2:n.4322G>A
XR_001756011.2:n.4187G>A
XR_001756012.2:n.4335G>A
XR_001756013.2:n.3653G>A
XR_002958832.1:n.3754G>A
XR_002958834.1:n.3978G>A
XR_002958835.1:n.3861G>A
XR_002958836.1:n.4544G>A
XR_002958837.1:n.4351G>A
XR_244571.4:n.3871G>A
XR_430568.4:n.4205G>A
NM_001146706.2:c.3413G>A NP_001140178.1:p.Trp1138Ter
NM_004653.5:c.3584G>A MANE Select NP_004644.2:p.Trp1195Ter
NM_001146705.2:c.3677G>A NP_001140177.1:p.Trp1226Ter