Canonical Allele Identifier: CA414840168
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706108A>C , CM000686.2:g.19706108A>C GRCh38
NC_000024.9:g.21867994A>C , CM000686.1:g.21867994A>C GRCh37
NC_000024.8:g.20327382A>C NCBI36
NG_032920.1:g.43832T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4507T>G MANE Select ENSP00000322408.4:p.Phe1503Val
ENST00000317961.8:c.4507T>G ENSP00000322408.4:p.Phe1503Val
ENST00000382806.6:c.4336T>G ENSP00000372256.2:p.Phe1446Val
ENST00000440077.5:c.4384T>G ENSP00000398543.1:p.Phe1462Val
ENST00000469599.6:n.3258T>G
ENST00000492117.1:n.4552T>G
ENST00000541639.5:c.4600T>G ENSP00000444293.1:p.Phe1534Val
NM_001146705.1:c.4600T>G NP_001140177.1:p.Phe1534Val
NM_001146706.1:c.4336T>G NP_001140178.1:p.Phe1446Val
NM_004653.4:c.4507T>G NP_004644.2:p.Phe1503Val
XM_005262560.1:c.4372T>G XP_005262617.1:p.Phe1458Val
XM_005262561.1:c.4276T>G XP_005262618.1:p.Phe1426Val
XM_011531468.1:c.4429T>G XP_011529770.1:p.Phe1477Val
XR_430568.2:n.5282T>G
XM_005262560.3:c.4372T>G XP_005262617.1:p.Phe1458Val
XM_005262561.3:c.4276T>G XP_005262618.1:p.Phe1426Val
XM_011531468.3:c.4429T>G XP_011529770.1:p.Phe1477Val
XM_024452495.1:c.2497T>G XP_024308263.1:p.Phe833Val
XM_024452496.1:c.2263T>G XP_024308264.1:p.Phe755Val
XR_001756009.2:n.5245T>G
XR_001756010.2:n.5213T>G
XR_001756011.2:n.5110T>G
XR_001756012.2:n.5258T>G
XR_001756013.2:n.4576T>G
XR_002958832.1:n.4830T>G
XR_002958834.1:n.4901T>G
XR_002958835.1:n.4784T>G
XR_002958836.1:n.5435T>G
XR_002958837.1:n.5242T>G
XR_244571.4:n.4762T>G
XR_430568.4:n.5281T>G
NM_001146706.2:c.4336T>G NP_001140178.1:p.Phe1446Val
NM_004653.5:c.4507T>G MANE Select NP_004644.2:p.Phe1503Val
NM_001146705.2:c.4600T>G NP_001140177.1:p.Phe1534Val