Canonical Allele Identifier: CA414839771
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706008T>C , CM000686.2:g.19706008T>C GRCh38
NC_000024.9:g.21867894T>C , CM000686.1:g.21867894T>C GRCh37
NC_000024.8:g.20327282T>C NCBI36
NG_032920.1:g.43932A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4607A>G MANE Select ENSP00000322408.4:p.Glu1536Gly
ENST00000317961.8:c.4607A>G ENSP00000322408.4:p.Glu1536Gly
ENST00000382806.6:c.4436A>G ENSP00000372256.2:p.Glu1479Gly
ENST00000469599.6:n.3358A>G
ENST00000492117.1:n.4652A>G
ENST00000541639.5:c.4700A>G ENSP00000444293.1:p.Glu1567Gly
NM_001146705.1:c.4700A>G NP_001140177.1:p.Glu1567Gly
NM_001146706.1:c.4436A>G NP_001140178.1:p.Glu1479Gly
NM_004653.4:c.4607A>G NP_004644.2:p.Glu1536Gly
XM_005262560.1:c.4472A>G XP_005262617.1:p.Glu1491Gly
XM_005262561.1:c.4376A>G XP_005262618.1:p.Glu1459Gly
XM_011531468.1:c.4529A>G XP_011529770.1:p.Glu1510Gly
XR_430568.2:n.5382A>G
XM_005262560.3:c.4472A>G XP_005262617.1:p.Glu1491Gly
XM_005262561.3:c.4376A>G XP_005262618.1:p.Glu1459Gly
XM_011531468.3:c.4529A>G XP_011529770.1:p.Glu1510Gly
XM_024452495.1:c.2597A>G XP_024308263.1:p.Glu866Gly
XM_024452496.1:c.2363A>G XP_024308264.1:p.Glu788Gly
XR_001756009.2:n.5345A>G
XR_001756010.2:n.5313A>G
XR_001756011.2:n.5210A>G
XR_001756012.2:n.5358A>G
XR_001756013.2:n.4676A>G
XR_002958832.1:n.4930A>G
XR_002958834.1:n.5001A>G
XR_002958835.1:n.4884A>G
XR_002958836.1:n.5535A>G
XR_002958837.1:n.5342A>G
XR_244571.4:n.4862A>G
XR_430568.4:n.5381A>G
NM_001146706.2:c.4436A>G NP_001140178.1:p.Glu1479Gly
NM_004653.5:c.4607A>G MANE Select NP_004644.2:p.Glu1536Gly
NM_001146705.2:c.4700A>G NP_001140177.1:p.Glu1567Gly