Canonical Allele Identifier: CA414840158
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706106G>T , CM000686.2:g.19706106G>T GRCh38
NC_000024.9:g.21867992G>T , CM000686.1:g.21867992G>T GRCh37
NC_000024.8:g.20327380G>T NCBI36
NG_032920.1:g.43834C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4509C>A MANE Select ENSP00000322408.4:p.Phe1503Leu
ENST00000317961.8:c.4509C>A ENSP00000322408.4:p.Phe1503Leu
ENST00000382806.6:c.4338C>A ENSP00000372256.2:p.Phe1446Leu
ENST00000440077.5:c.4386C>A ENSP00000398543.1:p.Phe1462Leu
ENST00000469599.6:n.3260C>A
ENST00000492117.1:n.4554C>A
ENST00000541639.5:c.4602C>A ENSP00000444293.1:p.Phe1534Leu
NM_001146705.1:c.4602C>A NP_001140177.1:p.Phe1534Leu
NM_001146706.1:c.4338C>A NP_001140178.1:p.Phe1446Leu
NM_004653.4:c.4509C>A NP_004644.2:p.Phe1503Leu
XM_005262560.1:c.4374C>A XP_005262617.1:p.Phe1458Leu
XM_005262561.1:c.4278C>A XP_005262618.1:p.Phe1426Leu
XM_011531468.1:c.4431C>A XP_011529770.1:p.Phe1477Leu
XR_430568.2:n.5284C>A
XM_005262560.3:c.4374C>A XP_005262617.1:p.Phe1458Leu
XM_005262561.3:c.4278C>A XP_005262618.1:p.Phe1426Leu
XM_011531468.3:c.4431C>A XP_011529770.1:p.Phe1477Leu
XM_024452495.1:c.2499C>A XP_024308263.1:p.Phe833Leu
XM_024452496.1:c.2265C>A XP_024308264.1:p.Phe755Leu
XR_001756009.2:n.5247C>A
XR_001756010.2:n.5215C>A
XR_001756011.2:n.5112C>A
XR_001756012.2:n.5260C>A
XR_001756013.2:n.4578C>A
XR_002958832.1:n.4832C>A
XR_002958834.1:n.4903C>A
XR_002958835.1:n.4786C>A
XR_002958836.1:n.5437C>A
XR_002958837.1:n.5244C>A
XR_244571.4:n.4764C>A
XR_430568.4:n.5283C>A
NM_001146706.2:c.4338C>A NP_001140178.1:p.Phe1446Leu
NM_004653.5:c.4509C>A MANE Select NP_004644.2:p.Phe1503Leu
NM_001146705.2:c.4602C>A NP_001140177.1:p.Phe1534Leu