Canonical Allele Identifier: CA414841910
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706811G>C , CM000686.2:g.19706811G>C GRCh38
NC_000024.9:g.21868697G>C , CM000686.1:g.21868697G>C GRCh37
NC_000024.8:g.20328085G>C NCBI36
NG_032920.1:g.43129C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4052C>G MANE Select ENSP00000322408.4:p.Ala1351Gly
ENST00000317961.8:c.4052C>G ENSP00000322408.4:p.Ala1351Gly
ENST00000382806.6:c.3881C>G ENSP00000372256.2:p.Ala1294Gly
ENST00000440077.5:c.3929C>G ENSP00000398543.1:p.Ala1310Gly
ENST00000469599.6:n.2650C>G
ENST00000492117.1:n.3944C>G
ENST00000541639.5:c.4145C>G ENSP00000444293.1:p.Ala1382Gly
NM_001146705.1:c.4145C>G NP_001140177.1:p.Ala1382Gly
NM_001146706.1:c.3881C>G NP_001140178.1:p.Ala1294Gly
NM_004653.4:c.4052C>G NP_004644.2:p.Ala1351Gly
XM_005262560.1:c.3917C>G XP_005262617.1:p.Ala1306Gly
XM_005262561.1:c.3821C>G XP_005262618.1:p.Ala1274Gly
XM_011531468.1:c.3974C>G XP_011529770.1:p.Ala1325Gly
XR_244571.2:n.4340C>G
XR_430568.2:n.4674C>G
XM_005262560.3:c.3917C>G XP_005262617.1:p.Ala1306Gly
XM_005262561.3:c.3821C>G XP_005262618.1:p.Ala1274Gly
XM_011531468.3:c.3974C>G XP_011529770.1:p.Ala1325Gly
XM_024452495.1:c.2042C>G XP_024308263.1:p.Ala681Gly
XM_024452496.1:c.1808C>G XP_024308264.1:p.Ala603Gly
XR_001756009.2:n.4790C>G
XR_001756010.2:n.4790C>G
XR_001756011.2:n.4655C>G
XR_001756012.2:n.4803C>G
XR_001756013.2:n.4121C>G
XR_002958832.1:n.4222C>G
XR_002958834.1:n.4446C>G
XR_002958835.1:n.4329C>G
XR_002958836.1:n.5012C>G
XR_002958837.1:n.4819C>G
XR_244571.4:n.4339C>G
XR_430568.4:n.4673C>G
NM_001146706.2:c.3881C>G NP_001140178.1:p.Ala1294Gly
NM_004653.5:c.4052C>G MANE Select NP_004644.2:p.Ala1351Gly
NM_001146705.2:c.4145C>G NP_001140177.1:p.Ala1382Gly