Canonical Allele Identifier: CA414840201
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706117G>A , CM000686.2:g.19706117G>A GRCh38
NC_000024.9:g.21868003G>A , CM000686.1:g.21868003G>A GRCh37
NC_000024.8:g.20327391G>A NCBI36
NG_032920.1:g.43823C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4498C>T MANE Select ENSP00000322408.4:p.His1500Tyr
ENST00000317961.8:c.4498C>T ENSP00000322408.4:p.His1500Tyr
ENST00000382806.6:c.4327C>T ENSP00000372256.2:p.His1443Tyr
ENST00000440077.5:c.4375C>T ENSP00000398543.1:p.His1459Tyr
ENST00000469599.6:n.3249C>T
ENST00000492117.1:n.4543C>T
ENST00000541639.5:c.4591C>T ENSP00000444293.1:p.His1531Tyr
NM_001146705.1:c.4591C>T NP_001140177.1:p.His1531Tyr
NM_001146706.1:c.4327C>T NP_001140178.1:p.His1443Tyr
NM_004653.4:c.4498C>T NP_004644.2:p.His1500Tyr
XM_005262560.1:c.4363C>T XP_005262617.1:p.His1455Tyr
XM_005262561.1:c.4267C>T XP_005262618.1:p.His1423Tyr
XM_011531468.1:c.4420C>T XP_011529770.1:p.His1474Tyr
XR_430568.2:n.5273C>T
XM_005262560.3:c.4363C>T XP_005262617.1:p.His1455Tyr
XM_005262561.3:c.4267C>T XP_005262618.1:p.His1423Tyr
XM_011531468.3:c.4420C>T XP_011529770.1:p.His1474Tyr
XM_024452495.1:c.2488C>T XP_024308263.1:p.His830Tyr
XM_024452496.1:c.2254C>T XP_024308264.1:p.His752Tyr
XR_001756009.2:n.5236C>T
XR_001756010.2:n.5204C>T
XR_001756011.2:n.5101C>T
XR_001756012.2:n.5249C>T
XR_001756013.2:n.4567C>T
XR_002958832.1:n.4821C>T
XR_002958834.1:n.4892C>T
XR_002958835.1:n.4775C>T
XR_002958836.1:n.5426C>T
XR_002958837.1:n.5233C>T
XR_244571.4:n.4753C>T
XR_430568.4:n.5272C>T
NM_001146706.2:c.4327C>T NP_001140178.1:p.His1443Tyr
NM_004653.5:c.4498C>T MANE Select NP_004644.2:p.His1500Tyr
NM_001146705.2:c.4591C>T NP_001140177.1:p.His1531Tyr