Canonical Allele Identifier: CA414843935
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707656G>T , CM000686.2:g.19707656G>T GRCh38
NC_000024.9:g.21869542G>T , CM000686.1:g.21869542G>T GRCh37
NC_000024.8:g.20328930G>T NCBI36
NG_032920.1:g.42284C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3490C>A MANE Select ENSP00000322408.4:p.Pro1164Thr
ENST00000317961.8:c.3490C>A ENSP00000322408.4:p.Pro1164Thr
ENST00000382806.6:c.3319C>A ENSP00000372256.2:p.Pro1107Thr
ENST00000415360.1:c.406C>A ENSP00000389433.1:p.Pro136Thr
ENST00000440077.5:c.3367C>A ENSP00000398543.1:p.Pro1123Thr
ENST00000469599.6:n.2088C>A
ENST00000492117.1:n.3382C>A
ENST00000541639.5:c.3583C>A ENSP00000444293.1:p.Pro1195Thr
NM_001146705.1:c.3583C>A NP_001140177.1:p.Pro1195Thr
NM_001146706.1:c.3319C>A NP_001140178.1:p.Pro1107Thr
NM_004653.4:c.3490C>A NP_004644.2:p.Pro1164Thr
XM_005262560.1:c.3355C>A XP_005262617.1:p.Pro1119Thr
XM_005262561.1:c.3259C>A XP_005262618.1:p.Pro1087Thr
XM_011531468.1:c.3412C>A XP_011529770.1:p.Pro1138Thr
XR_244571.2:n.3778C>A
XR_430568.2:n.4112C>A
XM_005262560.3:c.3355C>A XP_005262617.1:p.Pro1119Thr
XM_005262561.3:c.3259C>A XP_005262618.1:p.Pro1087Thr
XM_011531468.3:c.3412C>A XP_011529770.1:p.Pro1138Thr
XM_024452495.1:c.1480C>A XP_024308263.1:p.Pro494Thr
XM_024452496.1:c.1246C>A XP_024308264.1:p.Pro416Thr
XR_001756009.2:n.4228C>A
XR_001756010.2:n.4228C>A
XR_001756011.2:n.4093C>A
XR_001756012.2:n.4241C>A
XR_001756013.2:n.3559C>A
XR_002958832.1:n.3660C>A
XR_002958834.1:n.3884C>A
XR_002958835.1:n.3767C>A
XR_002958836.1:n.4450C>A
XR_002958837.1:n.4257C>A
XR_244571.4:n.3777C>A
XR_430568.4:n.4111C>A
NM_001146706.2:c.3319C>A NP_001140178.1:p.Pro1107Thr
NM_004653.5:c.3490C>A MANE Select NP_004644.2:p.Pro1164Thr
NM_001146705.2:c.3583C>A NP_001140177.1:p.Pro1195Thr