Canonical Allele Identifier: CA414840410
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706170T>G , CM000686.2:g.19706170T>G GRCh38
NC_000024.9:g.21868056T>G , CM000686.1:g.21868056T>G GRCh37
NC_000024.8:g.20327444T>G NCBI36
NG_032920.1:g.43770A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4445A>C MANE Select ENSP00000322408.4:p.His1482Pro
ENST00000317961.8:c.4445A>C ENSP00000322408.4:p.His1482Pro
ENST00000382806.6:c.4274A>C ENSP00000372256.2:p.His1425Pro
ENST00000440077.5:c.4322A>C ENSP00000398543.1:p.His1441Pro
ENST00000469599.6:n.3196A>C
ENST00000492117.1:n.4490A>C
ENST00000541639.5:c.4538A>C ENSP00000444293.1:p.His1513Pro
NM_001146705.1:c.4538A>C NP_001140177.1:p.His1513Pro
NM_001146706.1:c.4274A>C NP_001140178.1:p.His1425Pro
NM_004653.4:c.4445A>C NP_004644.2:p.His1482Pro
XM_005262560.1:c.4310A>C XP_005262617.1:p.His1437Pro
XM_005262561.1:c.4214A>C XP_005262618.1:p.His1405Pro
XM_011531468.1:c.4367A>C XP_011529770.1:p.His1456Pro
XR_430568.2:n.5220A>C
XM_005262560.3:c.4310A>C XP_005262617.1:p.His1437Pro
XM_005262561.3:c.4214A>C XP_005262618.1:p.His1405Pro
XM_011531468.3:c.4367A>C XP_011529770.1:p.His1456Pro
XM_024452495.1:c.2435A>C XP_024308263.1:p.His812Pro
XM_024452496.1:c.2201A>C XP_024308264.1:p.His734Pro
XR_001756009.2:n.5183A>C
XR_001756010.2:n.5151A>C
XR_001756011.2:n.5048A>C
XR_001756012.2:n.5196A>C
XR_001756013.2:n.4514A>C
XR_002958832.1:n.4768A>C
XR_002958834.1:n.4839A>C
XR_002958835.1:n.4722A>C
XR_002958836.1:n.5373A>C
XR_002958837.1:n.5180A>C
XR_244571.4:n.4700A>C
XR_430568.4:n.5219A>C
NM_001146706.2:c.4274A>C NP_001140178.1:p.His1425Pro
NM_004653.5:c.4445A>C MANE Select NP_004644.2:p.His1482Pro
NM_001146705.2:c.4538A>C NP_001140177.1:p.His1513Pro