Canonical Allele Identifier: CA414844505
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708011T>A , CM000686.2:g.19708011T>A GRCh38
NC_000024.9:g.21869897T>A , CM000686.1:g.21869897T>A GRCh37
NC_000024.8:g.20329285T>A NCBI36
NG_032920.1:g.41929A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3322A>T MANE Select ENSP00000322408.4:p.Lys1108Ter
ENST00000317961.8:c.3322A>T ENSP00000322408.4:p.Lys1108Ter
ENST00000382806.6:c.3151A>T ENSP00000372256.2:p.Lys1051Ter
ENST00000415360.1:c.238A>T ENSP00000389433.1:p.Lys80Ter
ENST00000440077.5:c.3199A>T ENSP00000398543.1:p.Lys1067Ter
ENST00000469599.6:n.1920A>T
ENST00000492117.1:n.3214A>T
ENST00000541639.5:c.3415A>T ENSP00000444293.1:p.Lys1139Ter
NM_001146705.1:c.3415A>T NP_001140177.1:p.Lys1139Ter
NM_001146706.1:c.3151A>T NP_001140178.1:p.Lys1051Ter
NM_004653.4:c.3322A>T NP_004644.2:p.Lys1108Ter
XM_005262560.1:c.3187A>T XP_005262617.1:p.Lys1063Ter
XM_005262561.1:c.3091A>T XP_005262618.1:p.Lys1031Ter
XM_011531468.1:c.3244A>T XP_011529770.1:p.Lys1082Ter
XR_244571.2:n.3610A>T
XR_430568.2:n.3944A>T
XM_005262560.3:c.3187A>T XP_005262617.1:p.Lys1063Ter
XM_005262561.3:c.3091A>T XP_005262618.1:p.Lys1031Ter
XM_011531468.3:c.3244A>T XP_011529770.1:p.Lys1082Ter
XM_024452495.1:c.1312A>T XP_024308263.1:p.Lys438Ter
XM_024452496.1:c.1078A>T XP_024308264.1:p.Lys360Ter
XR_001756009.2:n.4060A>T
XR_001756010.2:n.4060A>T
XR_001756011.2:n.3925A>T
XR_001756012.2:n.4073A>T
XR_001756013.2:n.3391A>T
XR_002958832.1:n.3492A>T
XR_002958834.1:n.3716A>T
XR_002958835.1:n.3599A>T
XR_002958836.1:n.4282A>T
XR_002958837.1:n.4089A>T
XR_244571.4:n.3609A>T
XR_430568.4:n.3943A>T
NM_001146706.2:c.3151A>T NP_001140178.1:p.Lys1051Ter
NM_004653.5:c.3322A>T MANE Select NP_004644.2:p.Lys1108Ter
NM_001146705.2:c.3415A>T NP_001140177.1:p.Lys1139Ter