Canonical Allele Identifier: CA414843139
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707437A>T , CM000686.2:g.19707437A>T GRCh38
NC_000024.9:g.21869323A>T , CM000686.1:g.21869323A>T GRCh37
NC_000024.8:g.20328711A>T NCBI36
NG_032920.1:g.42503T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3709T>A MANE Select ENSP00000322408.4:p.Ser1237Thr
ENST00000317961.8:c.3709T>A ENSP00000322408.4:p.Ser1237Thr
ENST00000382806.6:c.3538T>A ENSP00000372256.2:p.Ser1180Thr
ENST00000415360.1:c.625T>A ENSP00000389433.1:p.Ser209Thr
ENST00000440077.5:c.3586T>A ENSP00000398543.1:p.Ser1196Thr
ENST00000469599.6:n.2307T>A
ENST00000492117.1:n.3601T>A
ENST00000541639.5:c.3802T>A ENSP00000444293.1:p.Ser1268Thr
NM_001146705.1:c.3802T>A NP_001140177.1:p.Ser1268Thr
NM_001146706.1:c.3538T>A NP_001140178.1:p.Ser1180Thr
NM_004653.4:c.3709T>A NP_004644.2:p.Ser1237Thr
XM_005262560.1:c.3574T>A XP_005262617.1:p.Ser1192Thr
XM_005262561.1:c.3478T>A XP_005262618.1:p.Ser1160Thr
XM_011531468.1:c.3631T>A XP_011529770.1:p.Ser1211Thr
XR_244571.2:n.3997T>A
XR_430568.2:n.4331T>A
XM_005262560.3:c.3574T>A XP_005262617.1:p.Ser1192Thr
XM_005262561.3:c.3478T>A XP_005262618.1:p.Ser1160Thr
XM_011531468.3:c.3631T>A XP_011529770.1:p.Ser1211Thr
XM_024452495.1:c.1699T>A XP_024308263.1:p.Ser567Thr
XM_024452496.1:c.1465T>A XP_024308264.1:p.Ser489Thr
XR_001756009.2:n.4447T>A
XR_001756010.2:n.4447T>A
XR_001756011.2:n.4312T>A
XR_001756012.2:n.4460T>A
XR_001756013.2:n.3778T>A
XR_002958832.1:n.3879T>A
XR_002958834.1:n.4103T>A
XR_002958835.1:n.3986T>A
XR_002958836.1:n.4669T>A
XR_002958837.1:n.4476T>A
XR_244571.4:n.3996T>A
XR_430568.4:n.4330T>A
NM_001146706.2:c.3538T>A NP_001140178.1:p.Ser1180Thr
NM_004653.5:c.3709T>A MANE Select NP_004644.2:p.Ser1237Thr
NM_001146705.2:c.3802T>A NP_001140177.1:p.Ser1268Thr