Canonical Allele Identifier: CA414844386
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707981C>T , CM000686.2:g.19707981C>T GRCh38
NC_000024.9:g.21869867C>T , CM000686.1:g.21869867C>T GRCh37
NC_000024.8:g.20329255C>T NCBI36
NG_032920.1:g.41959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3352G>A MANE Select ENSP00000322408.4:p.Glu1118Lys
ENST00000317961.8:c.3352G>A ENSP00000322408.4:p.Glu1118Lys
ENST00000382806.6:c.3181G>A ENSP00000372256.2:p.Glu1061Lys
ENST00000415360.1:c.268G>A ENSP00000389433.1:p.Glu90Lys
ENST00000440077.5:c.3229G>A ENSP00000398543.1:p.Glu1077Lys
ENST00000469599.6:n.1950G>A
ENST00000492117.1:n.3244G>A
ENST00000541639.5:c.3445G>A ENSP00000444293.1:p.Glu1149Lys
NM_001146705.1:c.3445G>A NP_001140177.1:p.Glu1149Lys
NM_001146706.1:c.3181G>A NP_001140178.1:p.Glu1061Lys
NM_004653.4:c.3352G>A NP_004644.2:p.Glu1118Lys
XM_005262560.1:c.3217G>A XP_005262617.1:p.Glu1073Lys
XM_005262561.1:c.3121G>A XP_005262618.1:p.Glu1041Lys
XM_011531468.1:c.3274G>A XP_011529770.1:p.Glu1092Lys
XR_244571.2:n.3640G>A
XR_430568.2:n.3974G>A
XM_005262560.3:c.3217G>A XP_005262617.1:p.Glu1073Lys
XM_005262561.3:c.3121G>A XP_005262618.1:p.Glu1041Lys
XM_011531468.3:c.3274G>A XP_011529770.1:p.Glu1092Lys
XM_024452495.1:c.1342G>A XP_024308263.1:p.Glu448Lys
XM_024452496.1:c.1108G>A XP_024308264.1:p.Glu370Lys
XR_001756009.2:n.4090G>A
XR_001756010.2:n.4090G>A
XR_001756011.2:n.3955G>A
XR_001756012.2:n.4103G>A
XR_001756013.2:n.3421G>A
XR_002958832.1:n.3522G>A
XR_002958834.1:n.3746G>A
XR_002958835.1:n.3629G>A
XR_002958836.1:n.4312G>A
XR_002958837.1:n.4119G>A
XR_244571.4:n.3639G>A
XR_430568.4:n.3973G>A
NM_001146706.2:c.3181G>A NP_001140178.1:p.Glu1061Lys
NM_004653.5:c.3352G>A MANE Select NP_004644.2:p.Glu1118Lys
NM_001146705.2:c.3445G>A NP_001140177.1:p.Glu1149Lys