Canonical Allele Identifier: CA414844338
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707965G>T , CM000686.2:g.19707965G>T GRCh38
NC_000024.9:g.21869851G>T , CM000686.1:g.21869851G>T GRCh37
NC_000024.8:g.20329239G>T NCBI36
NG_032920.1:g.41975C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3368C>A MANE Select ENSP00000322408.4:p.Ser1123Tyr
ENST00000317961.8:c.3368C>A ENSP00000322408.4:p.Ser1123Tyr
ENST00000382806.6:c.3197C>A ENSP00000372256.2:p.Ser1066Tyr
ENST00000415360.1:c.284C>A ENSP00000389433.1:p.Ser95Tyr
ENST00000440077.5:c.3245C>A ENSP00000398543.1:p.Ser1082Tyr
ENST00000469599.6:n.1966C>A
ENST00000492117.1:n.3260C>A
ENST00000541639.5:c.3461C>A ENSP00000444293.1:p.Ser1154Tyr
NM_001146705.1:c.3461C>A NP_001140177.1:p.Ser1154Tyr
NM_001146706.1:c.3197C>A NP_001140178.1:p.Ser1066Tyr
NM_004653.4:c.3368C>A NP_004644.2:p.Ser1123Tyr
XM_005262560.1:c.3233C>A XP_005262617.1:p.Ser1078Tyr
XM_005262561.1:c.3137C>A XP_005262618.1:p.Ser1046Tyr
XM_011531468.1:c.3290C>A XP_011529770.1:p.Ser1097Tyr
XR_244571.2:n.3656C>A
XR_430568.2:n.3990C>A
XM_005262560.3:c.3233C>A XP_005262617.1:p.Ser1078Tyr
XM_005262561.3:c.3137C>A XP_005262618.1:p.Ser1046Tyr
XM_011531468.3:c.3290C>A XP_011529770.1:p.Ser1097Tyr
XM_024452495.1:c.1358C>A XP_024308263.1:p.Ser453Tyr
XM_024452496.1:c.1124C>A XP_024308264.1:p.Ser375Tyr
XR_001756009.2:n.4106C>A
XR_001756010.2:n.4106C>A
XR_001756011.2:n.3971C>A
XR_001756012.2:n.4119C>A
XR_001756013.2:n.3437C>A
XR_002958832.1:n.3538C>A
XR_002958834.1:n.3762C>A
XR_002958835.1:n.3645C>A
XR_002958836.1:n.4328C>A
XR_002958837.1:n.4135C>A
XR_244571.4:n.3655C>A
XR_430568.4:n.3989C>A
NM_001146706.2:c.3197C>A NP_001140178.1:p.Ser1066Tyr
NM_004653.5:c.3368C>A MANE Select NP_004644.2:p.Ser1123Tyr
NM_001146705.2:c.3461C>A NP_001140177.1:p.Ser1154Tyr