Canonical Allele Identifier: CA414843593
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707564G>T , CM000686.2:g.19707564G>T GRCh38
NC_000024.9:g.21869450G>T , CM000686.1:g.21869450G>T GRCh37
NC_000024.8:g.20328838G>T NCBI36
NG_032920.1:g.42376C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3582C>A MANE Select ENSP00000322408.4:p.Asp1194Glu
ENST00000317961.8:c.3582C>A ENSP00000322408.4:p.Asp1194Glu
ENST00000382806.6:c.3411C>A ENSP00000372256.2:p.Asp1137Glu
ENST00000415360.1:c.498C>A ENSP00000389433.1:p.Asp166Glu
ENST00000440077.5:c.3459C>A ENSP00000398543.1:p.Asp1153Glu
ENST00000469599.6:n.2180C>A
ENST00000492117.1:n.3474C>A
ENST00000541639.5:c.3675C>A ENSP00000444293.1:p.Asp1225Glu
NM_001146705.1:c.3675C>A NP_001140177.1:p.Asp1225Glu
NM_001146706.1:c.3411C>A NP_001140178.1:p.Asp1137Glu
NM_004653.4:c.3582C>A NP_004644.2:p.Asp1194Glu
XM_005262560.1:c.3447C>A XP_005262617.1:p.Asp1149Glu
XM_005262561.1:c.3351C>A XP_005262618.1:p.Asp1117Glu
XM_011531468.1:c.3504C>A XP_011529770.1:p.Asp1168Glu
XR_244571.2:n.3870C>A
XR_430568.2:n.4204C>A
XM_005262560.3:c.3447C>A XP_005262617.1:p.Asp1149Glu
XM_005262561.3:c.3351C>A XP_005262618.1:p.Asp1117Glu
XM_011531468.3:c.3504C>A XP_011529770.1:p.Asp1168Glu
XM_024452495.1:c.1572C>A XP_024308263.1:p.Asp524Glu
XM_024452496.1:c.1338C>A XP_024308264.1:p.Asp446Glu
XR_001756009.2:n.4320C>A
XR_001756010.2:n.4320C>A
XR_001756011.2:n.4185C>A
XR_001756012.2:n.4333C>A
XR_001756013.2:n.3651C>A
XR_002958832.1:n.3752C>A
XR_002958834.1:n.3976C>A
XR_002958835.1:n.3859C>A
XR_002958836.1:n.4542C>A
XR_002958837.1:n.4349C>A
XR_244571.4:n.3869C>A
XR_430568.4:n.4203C>A
NM_001146706.2:c.3411C>A NP_001140178.1:p.Asp1137Glu
NM_004653.5:c.3582C>A MANE Select NP_004644.2:p.Asp1194Glu
NM_001146705.2:c.3675C>A NP_001140177.1:p.Asp1225Glu