Canonical Allele Identifier: CA414844394
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707983G>T , CM000686.2:g.19707983G>T GRCh38
NC_000024.9:g.21869869G>T , CM000686.1:g.21869869G>T GRCh37
NC_000024.8:g.20329257G>T NCBI36
NG_032920.1:g.41957C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3350C>A MANE Select ENSP00000322408.4:p.Thr1117Lys
ENST00000317961.8:c.3350C>A ENSP00000322408.4:p.Thr1117Lys
ENST00000382806.6:c.3179C>A ENSP00000372256.2:p.Thr1060Lys
ENST00000415360.1:c.266C>A ENSP00000389433.1:p.Thr89Lys
ENST00000440077.5:c.3227C>A ENSP00000398543.1:p.Thr1076Lys
ENST00000469599.6:n.1948C>A
ENST00000492117.1:n.3242C>A
ENST00000541639.5:c.3443C>A ENSP00000444293.1:p.Thr1148Lys
NM_001146705.1:c.3443C>A NP_001140177.1:p.Thr1148Lys
NM_001146706.1:c.3179C>A NP_001140178.1:p.Thr1060Lys
NM_004653.4:c.3350C>A NP_004644.2:p.Thr1117Lys
XM_005262560.1:c.3215C>A XP_005262617.1:p.Thr1072Lys
XM_005262561.1:c.3119C>A XP_005262618.1:p.Thr1040Lys
XM_011531468.1:c.3272C>A XP_011529770.1:p.Thr1091Lys
XR_244571.2:n.3638C>A
XR_430568.2:n.3972C>A
XM_005262560.3:c.3215C>A XP_005262617.1:p.Thr1072Lys
XM_005262561.3:c.3119C>A XP_005262618.1:p.Thr1040Lys
XM_011531468.3:c.3272C>A XP_011529770.1:p.Thr1091Lys
XM_024452495.1:c.1340C>A XP_024308263.1:p.Thr447Lys
XM_024452496.1:c.1106C>A XP_024308264.1:p.Thr369Lys
XR_001756009.2:n.4088C>A
XR_001756010.2:n.4088C>A
XR_001756011.2:n.3953C>A
XR_001756012.2:n.4101C>A
XR_001756013.2:n.3419C>A
XR_002958832.1:n.3520C>A
XR_002958834.1:n.3744C>A
XR_002958835.1:n.3627C>A
XR_002958836.1:n.4310C>A
XR_002958837.1:n.4117C>A
XR_244571.4:n.3637C>A
XR_430568.4:n.3971C>A
NM_001146706.2:c.3179C>A NP_001140178.1:p.Thr1060Lys
NM_004653.5:c.3350C>A MANE Select NP_004644.2:p.Thr1117Lys
NM_001146705.2:c.3443C>A NP_001140177.1:p.Thr1148Lys