Canonical Allele Identifier: CA414840321
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706150G>T , CM000686.2:g.19706150G>T GRCh38
NC_000024.9:g.21868036G>T , CM000686.1:g.21868036G>T GRCh37
NC_000024.8:g.20327424G>T NCBI36
NG_032920.1:g.43790C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4465C>A MANE Select ENSP00000322408.4:p.Arg1489Ser
ENST00000317961.8:c.4465C>A ENSP00000322408.4:p.Arg1489Ser
ENST00000382806.6:c.4294C>A ENSP00000372256.2:p.Arg1432Ser
ENST00000440077.5:c.4342C>A ENSP00000398543.1:p.Arg1448Ser
ENST00000469599.6:n.3216C>A
ENST00000492117.1:n.4510C>A
ENST00000541639.5:c.4558C>A ENSP00000444293.1:p.Arg1520Ser
NM_001146705.1:c.4558C>A NP_001140177.1:p.Arg1520Ser
NM_001146706.1:c.4294C>A NP_001140178.1:p.Arg1432Ser
NM_004653.4:c.4465C>A NP_004644.2:p.Arg1489Ser
XM_005262560.1:c.4330C>A XP_005262617.1:p.Arg1444Ser
XM_005262561.1:c.4234C>A XP_005262618.1:p.Arg1412Ser
XM_011531468.1:c.4387C>A XP_011529770.1:p.Arg1463Ser
XR_430568.2:n.5240C>A
XM_005262560.3:c.4330C>A XP_005262617.1:p.Arg1444Ser
XM_005262561.3:c.4234C>A XP_005262618.1:p.Arg1412Ser
XM_011531468.3:c.4387C>A XP_011529770.1:p.Arg1463Ser
XM_024452495.1:c.2455C>A XP_024308263.1:p.Arg819Ser
XM_024452496.1:c.2221C>A XP_024308264.1:p.Arg741Ser
XR_001756009.2:n.5203C>A
XR_001756010.2:n.5171C>A
XR_001756011.2:n.5068C>A
XR_001756012.2:n.5216C>A
XR_001756013.2:n.4534C>A
XR_002958832.1:n.4788C>A
XR_002958834.1:n.4859C>A
XR_002958835.1:n.4742C>A
XR_002958836.1:n.5393C>A
XR_002958837.1:n.5200C>A
XR_244571.4:n.4720C>A
XR_430568.4:n.5239C>A
NM_001146706.2:c.4294C>A NP_001140178.1:p.Arg1432Ser
NM_004653.5:c.4465C>A MANE Select NP_004644.2:p.Arg1489Ser
NM_001146705.2:c.4558C>A NP_001140177.1:p.Arg1520Ser