Canonical Allele Identifier: CA414845853
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19741768C>G , CM000686.2:g.19741768C>G GRCh38
NC_000024.9:g.21903654C>G , CM000686.1:g.21903654C>G GRCh37
NC_000024.8:g.20363042C>G NCBI36
NG_032920.1:g.8172G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.318G>C MANE Select ENSP00000322408.4:p.Glu106Asp
ENST00000317961.8:c.318G>C ENSP00000322408.4:p.Glu106Asp
ENST00000382806.6:c.318G>C ENSP00000372256.2:p.Glu106Asp
ENST00000440077.5:c.229-280G>C ENSP00000398543.1:n.229-280G>C
ENST00000447300.1:c.318G>C ENSP00000416377.1:p.Glu106Asp
ENST00000541639.5:c.318G>C ENSP00000444293.1:p.Glu106Asp
NM_001146705.1:c.318G>C NP_001140177.1:p.Glu106Asp
NM_001146706.1:c.318G>C NP_001140178.1:p.Glu106Asp
NM_004653.4:c.318G>C NP_004644.2:p.Glu106Asp
XM_005262560.1:c.318G>C XP_005262617.1:p.Glu106Asp
XM_005262561.1:c.318G>C XP_005262618.1:p.Glu106Asp
XM_005262562.2:c.318G>C XP_005262619.1:p.Glu106Asp
XM_011531468.1:c.318G>C XP_011529770.1:p.Glu106Asp
XR_244571.2:n.606G>C
XR_430568.2:n.606G>C
XR_938609.1:n.606G>C
XR_938610.1:n.606G>C
XM_005262560.3:c.318G>C XP_005262617.1:p.Glu106Asp
XM_005262561.3:c.318G>C XP_005262618.1:p.Glu106Asp
XM_011531468.3:c.318G>C XP_011529770.1:p.Glu106Asp
XM_024452495.1:c.-1665G>C XP_024308263.1:n.-1665G>C
XR_001756009.2:n.605G>C
XR_001756010.2:n.605G>C
XR_001756011.2:n.605G>C
XR_001756012.2:n.605G>C
XR_001756013.2:n.605G>C
XR_002958832.1:n.605G>C
XR_002958833.1:n.605G>C
XR_002958834.1:n.605G>C
XR_002958835.1:n.605G>C
XR_002958836.1:n.605G>C
XR_002958837.1:n.605G>C
XR_244571.4:n.605G>C
XR_430568.4:n.605G>C
NM_001146706.2:c.318G>C NP_001140178.1:p.Glu106Asp
NM_004653.5:c.318G>C MANE Select NP_004644.2:p.Glu106Asp
NM_001146705.2:c.318G>C NP_001140177.1:p.Glu106Asp