Canonical Allele Identifier: CA414839929
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706050C>T , CM000686.2:g.19706050C>T GRCh38
NC_000024.9:g.21867936C>T , CM000686.1:g.21867936C>T GRCh37
NC_000024.8:g.20327324C>T NCBI36
NG_032920.1:g.43890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4565G>A MANE Select ENSP00000322408.4:p.Cys1522Tyr
ENST00000317961.8:c.4565G>A ENSP00000322408.4:p.Cys1522Tyr
ENST00000382806.6:c.4394G>A ENSP00000372256.2:p.Cys1465Tyr
ENST00000469599.6:n.3316G>A
ENST00000492117.1:n.4610G>A
ENST00000541639.5:c.4658G>A ENSP00000444293.1:p.Cys1553Tyr
NM_001146705.1:c.4658G>A NP_001140177.1:p.Cys1553Tyr
NM_001146706.1:c.4394G>A NP_001140178.1:p.Cys1465Tyr
NM_004653.4:c.4565G>A NP_004644.2:p.Cys1522Tyr
XM_005262560.1:c.4430G>A XP_005262617.1:p.Cys1477Tyr
XM_005262561.1:c.4334G>A XP_005262618.1:p.Cys1445Tyr
XM_011531468.1:c.4487G>A XP_011529770.1:p.Cys1496Tyr
XR_430568.2:n.5340G>A
XM_005262560.3:c.4430G>A XP_005262617.1:p.Cys1477Tyr
XM_005262561.3:c.4334G>A XP_005262618.1:p.Cys1445Tyr
XM_011531468.3:c.4487G>A XP_011529770.1:p.Cys1496Tyr
XM_024452495.1:c.2555G>A XP_024308263.1:p.Cys852Tyr
XM_024452496.1:c.2321G>A XP_024308264.1:p.Cys774Tyr
XR_001756009.2:n.5303G>A
XR_001756010.2:n.5271G>A
XR_001756011.2:n.5168G>A
XR_001756012.2:n.5316G>A
XR_001756013.2:n.4634G>A
XR_002958832.1:n.4888G>A
XR_002958834.1:n.4959G>A
XR_002958835.1:n.4842G>A
XR_002958836.1:n.5493G>A
XR_002958837.1:n.5300G>A
XR_244571.4:n.4820G>A
XR_430568.4:n.5339G>A
NM_001146706.2:c.4394G>A NP_001140178.1:p.Cys1465Tyr
NM_004653.5:c.4565G>A MANE Select NP_004644.2:p.Cys1522Tyr
NM_001146705.2:c.4658G>A NP_001140177.1:p.Cys1553Tyr