Canonical Allele Identifier: CA414844776
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708067A>T , CM000686.2:g.19708067A>T GRCh38
NC_000024.9:g.21869953A>T , CM000686.1:g.21869953A>T GRCh37
NC_000024.8:g.20329341A>T NCBI36
NG_032920.1:g.41873T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3266T>A MANE Select ENSP00000322408.4:p.Leu1089His
ENST00000317961.8:c.3266T>A ENSP00000322408.4:p.Leu1089His
ENST00000382806.6:c.3095T>A ENSP00000372256.2:p.Leu1032His
ENST00000415360.1:c.182T>A ENSP00000389433.1:p.Leu61His
ENST00000440077.5:c.3143T>A ENSP00000398543.1:p.Leu1048His
ENST00000469599.6:n.1864T>A
ENST00000492117.1:n.3158T>A
ENST00000541639.5:c.3359T>A ENSP00000444293.1:p.Leu1120His
NM_001146705.1:c.3359T>A NP_001140177.1:p.Leu1120His
NM_001146706.1:c.3095T>A NP_001140178.1:p.Leu1032His
NM_004653.4:c.3266T>A NP_004644.2:p.Leu1089His
XM_005262560.1:c.3131T>A XP_005262617.1:p.Leu1044His
XM_005262561.1:c.3035T>A XP_005262618.1:p.Leu1012His
XM_011531468.1:c.3188T>A XP_011529770.1:p.Leu1063His
XR_244571.2:n.3554T>A
XR_430568.2:n.3888T>A
XM_005262560.3:c.3131T>A XP_005262617.1:p.Leu1044His
XM_005262561.3:c.3035T>A XP_005262618.1:p.Leu1012His
XM_011531468.3:c.3188T>A XP_011529770.1:p.Leu1063His
XM_024452495.1:c.1256T>A XP_024308263.1:p.Leu419His
XM_024452496.1:c.1022T>A XP_024308264.1:p.Leu341His
XR_001756009.2:n.4004T>A
XR_001756010.2:n.4004T>A
XR_001756011.2:n.3869T>A
XR_001756012.2:n.4017T>A
XR_001756013.2:n.3335T>A
XR_002958832.1:n.3436T>A
XR_002958834.1:n.3660T>A
XR_002958835.1:n.3543T>A
XR_002958836.1:n.4226T>A
XR_002958837.1:n.4033T>A
XR_244571.4:n.3553T>A
XR_430568.4:n.3887T>A
NM_001146706.2:c.3095T>A NP_001140178.1:p.Leu1032His
NM_004653.5:c.3266T>A MANE Select NP_004644.2:p.Leu1089His
NM_001146705.2:c.3359T>A NP_001140177.1:p.Leu1120His