Canonical Allele Identifier: CA414843190
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707453A>T , CM000686.2:g.19707453A>T GRCh38
NC_000024.9:g.21869339A>T , CM000686.1:g.21869339A>T GRCh37
NC_000024.8:g.20328727A>T NCBI36
NG_032920.1:g.42487T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3693T>A MANE Select ENSP00000322408.4:p.Cys1231Ter
ENST00000317961.8:c.3693T>A ENSP00000322408.4:p.Cys1231Ter
ENST00000382806.6:c.3522T>A ENSP00000372256.2:p.Cys1174Ter
ENST00000415360.1:c.609T>A ENSP00000389433.1:p.Cys203Ter
ENST00000440077.5:c.3570T>A ENSP00000398543.1:p.Cys1190Ter
ENST00000469599.6:n.2291T>A
ENST00000492117.1:n.3585T>A
ENST00000541639.5:c.3786T>A ENSP00000444293.1:p.Cys1262Ter
NM_001146705.1:c.3786T>A NP_001140177.1:p.Cys1262Ter
NM_001146706.1:c.3522T>A NP_001140178.1:p.Cys1174Ter
NM_004653.4:c.3693T>A NP_004644.2:p.Cys1231Ter
XM_005262560.1:c.3558T>A XP_005262617.1:p.Cys1186Ter
XM_005262561.1:c.3462T>A XP_005262618.1:p.Cys1154Ter
XM_011531468.1:c.3615T>A XP_011529770.1:p.Cys1205Ter
XR_244571.2:n.3981T>A
XR_430568.2:n.4315T>A
XM_005262560.3:c.3558T>A XP_005262617.1:p.Cys1186Ter
XM_005262561.3:c.3462T>A XP_005262618.1:p.Cys1154Ter
XM_011531468.3:c.3615T>A XP_011529770.1:p.Cys1205Ter
XM_024452495.1:c.1683T>A XP_024308263.1:p.Cys561Ter
XM_024452496.1:c.1449T>A XP_024308264.1:p.Cys483Ter
XR_001756009.2:n.4431T>A
XR_001756010.2:n.4431T>A
XR_001756011.2:n.4296T>A
XR_001756012.2:n.4444T>A
XR_001756013.2:n.3762T>A
XR_002958832.1:n.3863T>A
XR_002958834.1:n.4087T>A
XR_002958835.1:n.3970T>A
XR_002958836.1:n.4653T>A
XR_002958837.1:n.4460T>A
XR_244571.4:n.3980T>A
XR_430568.4:n.4314T>A
NM_001146706.2:c.3522T>A NP_001140178.1:p.Cys1174Ter
NM_004653.5:c.3693T>A MANE Select NP_004644.2:p.Cys1231Ter
NM_001146705.2:c.3786T>A NP_001140177.1:p.Cys1262Ter