Canonical Allele Identifier: CA414840362
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706160C>A , CM000686.2:g.19706160C>A GRCh38
NC_000024.9:g.21868046C>A , CM000686.1:g.21868046C>A GRCh37
NC_000024.8:g.20327434C>A NCBI36
NG_032920.1:g.43780G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4455G>T MANE Select ENSP00000322408.4:p.Glu1485Asp
ENST00000317961.8:c.4455G>T ENSP00000322408.4:p.Glu1485Asp
ENST00000382806.6:c.4284G>T ENSP00000372256.2:p.Glu1428Asp
ENST00000440077.5:c.4332G>T ENSP00000398543.1:p.Glu1444Asp
ENST00000469599.6:n.3206G>T
ENST00000492117.1:n.4500G>T
ENST00000541639.5:c.4548G>T ENSP00000444293.1:p.Glu1516Asp
NM_001146705.1:c.4548G>T NP_001140177.1:p.Glu1516Asp
NM_001146706.1:c.4284G>T NP_001140178.1:p.Glu1428Asp
NM_004653.4:c.4455G>T NP_004644.2:p.Glu1485Asp
XM_005262560.1:c.4320G>T XP_005262617.1:p.Glu1440Asp
XM_005262561.1:c.4224G>T XP_005262618.1:p.Glu1408Asp
XM_011531468.1:c.4377G>T XP_011529770.1:p.Glu1459Asp
XR_430568.2:n.5230G>T
XM_005262560.3:c.4320G>T XP_005262617.1:p.Glu1440Asp
XM_005262561.3:c.4224G>T XP_005262618.1:p.Glu1408Asp
XM_011531468.3:c.4377G>T XP_011529770.1:p.Glu1459Asp
XM_024452495.1:c.2445G>T XP_024308263.1:p.Glu815Asp
XM_024452496.1:c.2211G>T XP_024308264.1:p.Glu737Asp
XR_001756009.2:n.5193G>T
XR_001756010.2:n.5161G>T
XR_001756011.2:n.5058G>T
XR_001756012.2:n.5206G>T
XR_001756013.2:n.4524G>T
XR_002958832.1:n.4778G>T
XR_002958834.1:n.4849G>T
XR_002958835.1:n.4732G>T
XR_002958836.1:n.5383G>T
XR_002958837.1:n.5190G>T
XR_244571.4:n.4710G>T
XR_430568.4:n.5229G>T
NM_001146706.2:c.4284G>T NP_001140178.1:p.Glu1428Asp
NM_004653.5:c.4455G>T MANE Select NP_004644.2:p.Glu1485Asp
NM_001146705.2:c.4548G>T NP_001140177.1:p.Glu1516Asp