Canonical Allele Identifier: CA414843507
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707542A>T , CM000686.2:g.19707542A>T GRCh38
NC_000024.9:g.21869428A>T , CM000686.1:g.21869428A>T GRCh37
NC_000024.8:g.20328816A>T NCBI36
NG_032920.1:g.42398T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3604T>A MANE Select ENSP00000322408.4:p.Ser1202Thr
ENST00000317961.8:c.3604T>A ENSP00000322408.4:p.Ser1202Thr
ENST00000382806.6:c.3433T>A ENSP00000372256.2:p.Ser1145Thr
ENST00000415360.1:c.520T>A ENSP00000389433.1:p.Ser174Thr
ENST00000440077.5:c.3481T>A ENSP00000398543.1:p.Ser1161Thr
ENST00000469599.6:n.2202T>A
ENST00000492117.1:n.3496T>A
ENST00000541639.5:c.3697T>A ENSP00000444293.1:p.Ser1233Thr
NM_001146705.1:c.3697T>A NP_001140177.1:p.Ser1233Thr
NM_001146706.1:c.3433T>A NP_001140178.1:p.Ser1145Thr
NM_004653.4:c.3604T>A NP_004644.2:p.Ser1202Thr
XM_005262560.1:c.3469T>A XP_005262617.1:p.Ser1157Thr
XM_005262561.1:c.3373T>A XP_005262618.1:p.Ser1125Thr
XM_011531468.1:c.3526T>A XP_011529770.1:p.Ser1176Thr
XR_244571.2:n.3892T>A
XR_430568.2:n.4226T>A
XM_005262560.3:c.3469T>A XP_005262617.1:p.Ser1157Thr
XM_005262561.3:c.3373T>A XP_005262618.1:p.Ser1125Thr
XM_011531468.3:c.3526T>A XP_011529770.1:p.Ser1176Thr
XM_024452495.1:c.1594T>A XP_024308263.1:p.Ser532Thr
XM_024452496.1:c.1360T>A XP_024308264.1:p.Ser454Thr
XR_001756009.2:n.4342T>A
XR_001756010.2:n.4342T>A
XR_001756011.2:n.4207T>A
XR_001756012.2:n.4355T>A
XR_001756013.2:n.3673T>A
XR_002958832.1:n.3774T>A
XR_002958834.1:n.3998T>A
XR_002958835.1:n.3881T>A
XR_002958836.1:n.4564T>A
XR_002958837.1:n.4371T>A
XR_244571.4:n.3891T>A
XR_430568.4:n.4225T>A
NM_001146706.2:c.3433T>A NP_001140178.1:p.Ser1145Thr
NM_004653.5:c.3604T>A MANE Select NP_004644.2:p.Ser1202Thr
NM_001146705.2:c.3697T>A NP_001140177.1:p.Ser1233Thr