Canonical Allele Identifier: CA414840451
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706179T>C , CM000686.2:g.19706179T>C GRCh38
NC_000024.9:g.21868065T>C , CM000686.1:g.21868065T>C GRCh37
NC_000024.8:g.20327453T>C NCBI36
NG_032920.1:g.43761A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4436A>G MANE Select ENSP00000322408.4:p.Glu1479Gly
ENST00000317961.8:c.4436A>G ENSP00000322408.4:p.Glu1479Gly
ENST00000382806.6:c.4265A>G ENSP00000372256.2:p.Glu1422Gly
ENST00000440077.5:c.4313A>G ENSP00000398543.1:p.Glu1438Gly
ENST00000469599.6:n.3187A>G
ENST00000492117.1:n.4481A>G
ENST00000541639.5:c.4529A>G ENSP00000444293.1:p.Glu1510Gly
NM_001146705.1:c.4529A>G NP_001140177.1:p.Glu1510Gly
NM_001146706.1:c.4265A>G NP_001140178.1:p.Glu1422Gly
NM_004653.4:c.4436A>G NP_004644.2:p.Glu1479Gly
XM_005262560.1:c.4301A>G XP_005262617.1:p.Glu1434Gly
XM_005262561.1:c.4205A>G XP_005262618.1:p.Glu1402Gly
XM_011531468.1:c.4358A>G XP_011529770.1:p.Glu1453Gly
XR_430568.2:n.5211A>G
XM_005262560.3:c.4301A>G XP_005262617.1:p.Glu1434Gly
XM_005262561.3:c.4205A>G XP_005262618.1:p.Glu1402Gly
XM_011531468.3:c.4358A>G XP_011529770.1:p.Glu1453Gly
XM_024452495.1:c.2426A>G XP_024308263.1:p.Glu809Gly
XM_024452496.1:c.2192A>G XP_024308264.1:p.Glu731Gly
XR_001756009.2:n.5174A>G
XR_001756010.2:n.5142A>G
XR_001756011.2:n.5039A>G
XR_001756012.2:n.5187A>G
XR_001756013.2:n.4505A>G
XR_002958832.1:n.4759A>G
XR_002958834.1:n.4830A>G
XR_002958835.1:n.4713A>G
XR_002958836.1:n.5364A>G
XR_002958837.1:n.5171A>G
XR_244571.4:n.4691A>G
XR_430568.4:n.5210A>G
NM_001146706.2:c.4265A>G NP_001140178.1:p.Glu1422Gly
NM_004653.5:c.4436A>G MANE Select NP_004644.2:p.Glu1479Gly
NM_001146705.2:c.4529A>G NP_001140177.1:p.Glu1510Gly