Canonical Allele Identifier: CA414840120
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4517G>T MANE Select ENSP00000322408.4:p.Gly1506Val
ENST00000317961.8:c.4517G>T ENSP00000322408.4:p.Gly1506Val
ENST00000382806.6:c.4346G>T ENSP00000372256.2:p.Gly1449Val
ENST00000440077.5:c.4394G>T ENSP00000398543.1:p.Gly1465Val
ENST00000469599.6:n.3268G>T
ENST00000492117.1:n.4562G>T
ENST00000541639.5:c.4610G>T ENSP00000444293.1:p.Gly1537Val
NM_001146705.1:c.4610G>T NP_001140177.1:p.Gly1537Val
NM_001146706.1:c.4346G>T NP_001140178.1:p.Gly1449Val
NM_004653.4:c.4517G>T NP_004644.2:p.Gly1506Val
XM_005262560.1:c.4382G>T XP_005262617.1:p.Gly1461Val
XM_005262561.1:c.4286G>T XP_005262618.1:p.Gly1429Val
XM_011531468.1:c.4439G>T XP_011529770.1:p.Gly1480Val
XR_430568.2:n.5292G>T
XM_005262560.3:c.4382G>T XP_005262617.1:p.Gly1461Val
XM_005262561.3:c.4286G>T XP_005262618.1:p.Gly1429Val
XM_011531468.3:c.4439G>T XP_011529770.1:p.Gly1480Val
XM_024452495.1:c.2507G>T XP_024308263.1:p.Gly836Val
XM_024452496.1:c.2273G>T XP_024308264.1:p.Gly758Val
XR_001756009.2:n.5255G>T
XR_001756010.2:n.5223G>T
XR_001756011.2:n.5120G>T
XR_001756012.2:n.5268G>T
XR_001756013.2:n.4586G>T
XR_002958832.1:n.4840G>T
XR_002958834.1:n.4911G>T
XR_002958835.1:n.4794G>T
XR_002958836.1:n.5445G>T
XR_002958837.1:n.5252G>T
XR_244571.4:n.4772G>T
XR_430568.4:n.5291G>T
NM_001146706.2:c.4346G>T NP_001140178.1:p.Gly1449Val
NM_004653.5:c.4517G>T MANE Select NP_004644.2:p.Gly1506Val
NM_001146705.2:c.4610G>T NP_001140177.1:p.Gly1537Val