Canonical Allele Identifier: CA414840136
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706101T>C , CM000686.2:g.19706101T>C GRCh38
NC_000024.9:g.21867987T>C , CM000686.1:g.21867987T>C GRCh37
NC_000024.8:g.20327375T>C NCBI36
NG_032920.1:g.43839A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4514A>G MANE Select ENSP00000322408.4:p.Lys1505Arg
ENST00000317961.8:c.4514A>G ENSP00000322408.4:p.Lys1505Arg
ENST00000382806.6:c.4343A>G ENSP00000372256.2:p.Lys1448Arg
ENST00000440077.5:c.4391A>G ENSP00000398543.1:p.Lys1464Arg
ENST00000469599.6:n.3265A>G
ENST00000492117.1:n.4559A>G
ENST00000541639.5:c.4607A>G ENSP00000444293.1:p.Lys1536Arg
NM_001146705.1:c.4607A>G NP_001140177.1:p.Lys1536Arg
NM_001146706.1:c.4343A>G NP_001140178.1:p.Lys1448Arg
NM_004653.4:c.4514A>G NP_004644.2:p.Lys1505Arg
XM_005262560.1:c.4379A>G XP_005262617.1:p.Lys1460Arg
XM_005262561.1:c.4283A>G XP_005262618.1:p.Lys1428Arg
XM_011531468.1:c.4436A>G XP_011529770.1:p.Lys1479Arg
XR_430568.2:n.5289A>G
XM_005262560.3:c.4379A>G XP_005262617.1:p.Lys1460Arg
XM_005262561.3:c.4283A>G XP_005262618.1:p.Lys1428Arg
XM_011531468.3:c.4436A>G XP_011529770.1:p.Lys1479Arg
XM_024452495.1:c.2504A>G XP_024308263.1:p.Lys835Arg
XM_024452496.1:c.2270A>G XP_024308264.1:p.Lys757Arg
XR_001756009.2:n.5252A>G
XR_001756010.2:n.5220A>G
XR_001756011.2:n.5117A>G
XR_001756012.2:n.5265A>G
XR_001756013.2:n.4583A>G
XR_002958832.1:n.4837A>G
XR_002958834.1:n.4908A>G
XR_002958835.1:n.4791A>G
XR_002958836.1:n.5442A>G
XR_002958837.1:n.5249A>G
XR_244571.4:n.4769A>G
XR_430568.4:n.5288A>G
NM_001146706.2:c.4343A>G NP_001140178.1:p.Lys1448Arg
NM_004653.5:c.4514A>G MANE Select NP_004644.2:p.Lys1505Arg
NM_001146705.2:c.4607A>G NP_001140177.1:p.Lys1536Arg