Canonical Allele Identifier: CA414844402
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707985G>T , CM000686.2:g.19707985G>T GRCh38
NC_000024.9:g.21869871G>T , CM000686.1:g.21869871G>T GRCh37
NC_000024.8:g.20329259G>T NCBI36
NG_032920.1:g.41955C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3348C>A MANE Select ENSP00000322408.4:p.Asp1116Glu
ENST00000317961.8:c.3348C>A ENSP00000322408.4:p.Asp1116Glu
ENST00000382806.6:c.3177C>A ENSP00000372256.2:p.Asp1059Glu
ENST00000415360.1:c.264C>A ENSP00000389433.1:p.Asp88Glu
ENST00000440077.5:c.3225C>A ENSP00000398543.1:p.Asp1075Glu
ENST00000469599.6:n.1946C>A
ENST00000492117.1:n.3240C>A
ENST00000541639.5:c.3441C>A ENSP00000444293.1:p.Asp1147Glu
NM_001146705.1:c.3441C>A NP_001140177.1:p.Asp1147Glu
NM_001146706.1:c.3177C>A NP_001140178.1:p.Asp1059Glu
NM_004653.4:c.3348C>A NP_004644.2:p.Asp1116Glu
XM_005262560.1:c.3213C>A XP_005262617.1:p.Asp1071Glu
XM_005262561.1:c.3117C>A XP_005262618.1:p.Asp1039Glu
XM_011531468.1:c.3270C>A XP_011529770.1:p.Asp1090Glu
XR_244571.2:n.3636C>A
XR_430568.2:n.3970C>A
XM_005262560.3:c.3213C>A XP_005262617.1:p.Asp1071Glu
XM_005262561.3:c.3117C>A XP_005262618.1:p.Asp1039Glu
XM_011531468.3:c.3270C>A XP_011529770.1:p.Asp1090Glu
XM_024452495.1:c.1338C>A XP_024308263.1:p.Asp446Glu
XM_024452496.1:c.1104C>A XP_024308264.1:p.Asp368Glu
XR_001756009.2:n.4086C>A
XR_001756010.2:n.4086C>A
XR_001756011.2:n.3951C>A
XR_001756012.2:n.4099C>A
XR_001756013.2:n.3417C>A
XR_002958832.1:n.3518C>A
XR_002958834.1:n.3742C>A
XR_002958835.1:n.3625C>A
XR_002958836.1:n.4308C>A
XR_002958837.1:n.4115C>A
XR_244571.4:n.3635C>A
XR_430568.4:n.3969C>A
NM_001146706.2:c.3177C>A NP_001140178.1:p.Asp1059Glu
NM_004653.5:c.3348C>A MANE Select NP_004644.2:p.Asp1116Glu
NM_001146705.2:c.3441C>A NP_001140177.1:p.Asp1147Glu