Canonical Allele Identifier: CA414841907
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706809G>T , CM000686.2:g.19706809G>T GRCh38
NC_000024.9:g.21868695G>T , CM000686.1:g.21868695G>T GRCh37
NC_000024.8:g.20328083G>T NCBI36
NG_032920.1:g.43131C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4054C>A MANE Select ENSP00000322408.4:p.Pro1352Thr
ENST00000317961.8:c.4054C>A ENSP00000322408.4:p.Pro1352Thr
ENST00000382806.6:c.3883C>A ENSP00000372256.2:p.Pro1295Thr
ENST00000440077.5:c.3931C>A ENSP00000398543.1:p.Pro1311Thr
ENST00000469599.6:n.2652C>A
ENST00000492117.1:n.3946C>A
ENST00000541639.5:c.4147C>A ENSP00000444293.1:p.Pro1383Thr
NM_001146705.1:c.4147C>A NP_001140177.1:p.Pro1383Thr
NM_001146706.1:c.3883C>A NP_001140178.1:p.Pro1295Thr
NM_004653.4:c.4054C>A NP_004644.2:p.Pro1352Thr
XM_005262560.1:c.3919C>A XP_005262617.1:p.Pro1307Thr
XM_005262561.1:c.3823C>A XP_005262618.1:p.Pro1275Thr
XM_011531468.1:c.3976C>A XP_011529770.1:p.Pro1326Thr
XR_244571.2:n.4342C>A
XR_430568.2:n.4676C>A
XM_005262560.3:c.3919C>A XP_005262617.1:p.Pro1307Thr
XM_005262561.3:c.3823C>A XP_005262618.1:p.Pro1275Thr
XM_011531468.3:c.3976C>A XP_011529770.1:p.Pro1326Thr
XM_024452495.1:c.2044C>A XP_024308263.1:p.Pro682Thr
XM_024452496.1:c.1810C>A XP_024308264.1:p.Pro604Thr
XR_001756009.2:n.4792C>A
XR_001756010.2:n.4792C>A
XR_001756011.2:n.4657C>A
XR_001756012.2:n.4805C>A
XR_001756013.2:n.4123C>A
XR_002958832.1:n.4224C>A
XR_002958834.1:n.4448C>A
XR_002958835.1:n.4331C>A
XR_002958836.1:n.5014C>A
XR_002958837.1:n.4821C>A
XR_244571.4:n.4341C>A
XR_430568.4:n.4675C>A
NM_001146706.2:c.3883C>A NP_001140178.1:p.Pro1295Thr
NM_004653.5:c.4054C>A MANE Select NP_004644.2:p.Pro1352Thr
NM_001146705.2:c.4147C>A NP_001140177.1:p.Pro1383Thr