Canonical Allele Identifier: CA414840122
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706098C>T , CM000686.2:g.19706098C>T GRCh38
NC_000024.9:g.21867984C>T , CM000686.1:g.21867984C>T GRCh37
NC_000024.8:g.20327372C>T NCBI36
NG_032920.1:g.43842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4517G>A MANE Select ENSP00000322408.4:p.Gly1506Glu
ENST00000317961.8:c.4517G>A ENSP00000322408.4:p.Gly1506Glu
ENST00000382806.6:c.4346G>A ENSP00000372256.2:p.Gly1449Glu
ENST00000440077.5:c.4394G>A ENSP00000398543.1:p.Gly1465Glu
ENST00000469599.6:n.3268G>A
ENST00000492117.1:n.4562G>A
ENST00000541639.5:c.4610G>A ENSP00000444293.1:p.Gly1537Glu
NM_001146705.1:c.4610G>A NP_001140177.1:p.Gly1537Glu
NM_001146706.1:c.4346G>A NP_001140178.1:p.Gly1449Glu
NM_004653.4:c.4517G>A NP_004644.2:p.Gly1506Glu
XM_005262560.1:c.4382G>A XP_005262617.1:p.Gly1461Glu
XM_005262561.1:c.4286G>A XP_005262618.1:p.Gly1429Glu
XM_011531468.1:c.4439G>A XP_011529770.1:p.Gly1480Glu
XR_430568.2:n.5292G>A
XM_005262560.3:c.4382G>A XP_005262617.1:p.Gly1461Glu
XM_005262561.3:c.4286G>A XP_005262618.1:p.Gly1429Glu
XM_011531468.3:c.4439G>A XP_011529770.1:p.Gly1480Glu
XM_024452495.1:c.2507G>A XP_024308263.1:p.Gly836Glu
XM_024452496.1:c.2273G>A XP_024308264.1:p.Gly758Glu
XR_001756009.2:n.5255G>A
XR_001756010.2:n.5223G>A
XR_001756011.2:n.5120G>A
XR_001756012.2:n.5268G>A
XR_001756013.2:n.4586G>A
XR_002958832.1:n.4840G>A
XR_002958834.1:n.4911G>A
XR_002958835.1:n.4794G>A
XR_002958836.1:n.5445G>A
XR_002958837.1:n.5252G>A
XR_244571.4:n.4772G>A
XR_430568.4:n.5291G>A
NM_001146706.2:c.4346G>A NP_001140178.1:p.Gly1449Glu
NM_004653.5:c.4517G>A MANE Select NP_004644.2:p.Gly1506Glu
NM_001146705.2:c.4610G>A NP_001140177.1:p.Gly1537Glu