Canonical Allele Identifier: CA414842006
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19732694T>G , CM000686.2:g.19732694T>G GRCh38
NC_000024.9:g.21894580T>G , CM000686.1:g.21894580T>G GRCh37
NC_000024.8:g.20353968T>G NCBI36
NG_032920.1:g.17246A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.982A>C MANE Select ENSP00000322408.4:p.Lys328Gln
ENST00000317961.8:c.982A>C ENSP00000322408.4:p.Lys328Gln
ENST00000382806.6:c.811A>C ENSP00000372256.2:p.Lys271Gln
ENST00000440077.5:c.859A>C ENSP00000398543.1:p.Lys287Gln
ENST00000447300.1:c.847A>C ENSP00000416377.1:p.Lys283Gln
ENST00000541639.5:c.982A>C ENSP00000444293.1:p.Lys328Gln
NM_001146705.1:c.982A>C NP_001140177.1:p.Lys328Gln
NM_001146706.1:c.811A>C NP_001140178.1:p.Lys271Gln
NM_004653.4:c.982A>C NP_004644.2:p.Lys328Gln
XM_005262560.1:c.847A>C XP_005262617.1:p.Lys283Gln
XM_005262561.1:c.982A>C XP_005262618.1:p.Lys328Gln
XM_005262562.2:c.982A>C XP_005262619.1:p.Lys328Gln
XM_011531468.1:c.982A>C XP_011529770.1:p.Lys328Gln
XR_244571.2:n.1270A>C
XR_430568.2:n.1270A>C
XR_938609.1:n.1270A>C
XR_938610.1:n.1270A>C
XM_005262560.3:c.847A>C XP_005262617.1:p.Lys283Gln
XM_005262561.3:c.982A>C XP_005262618.1:p.Lys328Gln
XM_011531468.3:c.982A>C XP_011529770.1:p.Lys328Gln
XM_024452495.1:c.-1136A>C XP_024308263.1:n.-1136A>C
XR_001756009.2:n.1269A>C
XR_001756010.2:n.1269A>C
XR_001756011.2:n.1134A>C
XR_001756012.2:n.1269A>C
XR_001756013.2:n.1269A>C
XR_002958832.1:n.1269A>C
XR_002958833.1:n.1269A>C
XR_002958834.1:n.1269A>C
XR_002958835.1:n.1269A>C
XR_002958836.1:n.1269A>C
XR_002958837.1:n.1269A>C
XR_244571.4:n.1269A>C
XR_430568.4:n.1269A>C
NM_001146706.2:c.811A>C NP_001140178.1:p.Lys271Gln
NM_004653.5:c.982A>C MANE Select NP_004644.2:p.Lys328Gln
NM_001146705.2:c.982A>C NP_001140177.1:p.Lys328Gln