Canonical Allele Identifier: CA414844248
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707939A>T , CM000686.2:g.19707939A>T GRCh38
NC_000024.9:g.21869825A>T , CM000686.1:g.21869825A>T GRCh37
NC_000024.8:g.20329213A>T NCBI36
NG_032920.1:g.42001T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3394T>A MANE Select ENSP00000322408.4:p.Ser1132Thr
ENST00000317961.8:c.3394T>A ENSP00000322408.4:p.Ser1132Thr
ENST00000382806.6:c.3223T>A ENSP00000372256.2:p.Ser1075Thr
ENST00000415360.1:c.310T>A ENSP00000389433.1:p.Ser104Thr
ENST00000440077.5:c.3271T>A ENSP00000398543.1:p.Ser1091Thr
ENST00000469599.6:n.1992T>A
ENST00000492117.1:n.3286T>A
ENST00000541639.5:c.3487T>A ENSP00000444293.1:p.Ser1163Thr
NM_001146705.1:c.3487T>A NP_001140177.1:p.Ser1163Thr
NM_001146706.1:c.3223T>A NP_001140178.1:p.Ser1075Thr
NM_004653.4:c.3394T>A NP_004644.2:p.Ser1132Thr
XM_005262560.1:c.3259T>A XP_005262617.1:p.Ser1087Thr
XM_005262561.1:c.3163T>A XP_005262618.1:p.Ser1055Thr
XM_011531468.1:c.3316T>A XP_011529770.1:p.Ser1106Thr
XR_244571.2:n.3682T>A
XR_430568.2:n.4016T>A
XM_005262560.3:c.3259T>A XP_005262617.1:p.Ser1087Thr
XM_005262561.3:c.3163T>A XP_005262618.1:p.Ser1055Thr
XM_011531468.3:c.3316T>A XP_011529770.1:p.Ser1106Thr
XM_024452495.1:c.1384T>A XP_024308263.1:p.Ser462Thr
XM_024452496.1:c.1150T>A XP_024308264.1:p.Ser384Thr
XR_001756009.2:n.4132T>A
XR_001756010.2:n.4132T>A
XR_001756011.2:n.3997T>A
XR_001756012.2:n.4145T>A
XR_001756013.2:n.3463T>A
XR_002958832.1:n.3564T>A
XR_002958834.1:n.3788T>A
XR_002958835.1:n.3671T>A
XR_002958836.1:n.4354T>A
XR_002958837.1:n.4161T>A
XR_244571.4:n.3681T>A
XR_430568.4:n.4015T>A
NM_001146706.2:c.3223T>A NP_001140178.1:p.Ser1075Thr
NM_004653.5:c.3394T>A MANE Select NP_004644.2:p.Ser1132Thr
NM_001146705.2:c.3487T>A NP_001140177.1:p.Ser1163Thr