Canonical Allele Identifier: CA414844524
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708014C>T , CM000686.2:g.19708014C>T GRCh38
NC_000024.9:g.21869900C>T , CM000686.1:g.21869900C>T GRCh37
NC_000024.8:g.20329288C>T NCBI36
NG_032920.1:g.41926G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3319G>A MANE Select ENSP00000322408.4:p.Glu1107Lys
ENST00000317961.8:c.3319G>A ENSP00000322408.4:p.Glu1107Lys
ENST00000382806.6:c.3148G>A ENSP00000372256.2:p.Glu1050Lys
ENST00000415360.1:c.235G>A ENSP00000389433.1:p.Glu79Lys
ENST00000440077.5:c.3196G>A ENSP00000398543.1:p.Glu1066Lys
ENST00000469599.6:n.1917G>A
ENST00000492117.1:n.3211G>A
ENST00000541639.5:c.3412G>A ENSP00000444293.1:p.Glu1138Lys
NM_001146705.1:c.3412G>A NP_001140177.1:p.Glu1138Lys
NM_001146706.1:c.3148G>A NP_001140178.1:p.Glu1050Lys
NM_004653.4:c.3319G>A NP_004644.2:p.Glu1107Lys
XM_005262560.1:c.3184G>A XP_005262617.1:p.Glu1062Lys
XM_005262561.1:c.3088G>A XP_005262618.1:p.Glu1030Lys
XM_011531468.1:c.3241G>A XP_011529770.1:p.Glu1081Lys
XR_244571.2:n.3607G>A
XR_430568.2:n.3941G>A
XM_005262560.3:c.3184G>A XP_005262617.1:p.Glu1062Lys
XM_005262561.3:c.3088G>A XP_005262618.1:p.Glu1030Lys
XM_011531468.3:c.3241G>A XP_011529770.1:p.Glu1081Lys
XM_024452495.1:c.1309G>A XP_024308263.1:p.Glu437Lys
XM_024452496.1:c.1075G>A XP_024308264.1:p.Glu359Lys
XR_001756009.2:n.4057G>A
XR_001756010.2:n.4057G>A
XR_001756011.2:n.3922G>A
XR_001756012.2:n.4070G>A
XR_001756013.2:n.3388G>A
XR_002958832.1:n.3489G>A
XR_002958834.1:n.3713G>A
XR_002958835.1:n.3596G>A
XR_002958836.1:n.4279G>A
XR_002958837.1:n.4086G>A
XR_244571.4:n.3606G>A
XR_430568.4:n.3940G>A
NM_001146706.2:c.3148G>A NP_001140178.1:p.Glu1050Lys
NM_004653.5:c.3319G>A MANE Select NP_004644.2:p.Glu1107Lys
NM_001146705.2:c.3412G>A NP_001140177.1:p.Glu1138Lys