Canonical Allele Identifier: CA414842037
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706842C>T , CM000686.2:g.19706842C>T GRCh38
NC_000024.9:g.21868728C>T , CM000686.1:g.21868728C>T GRCh37
NC_000024.8:g.20328116C>T NCBI36
NG_032920.1:g.43098G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4021G>A MANE Select ENSP00000322408.4:p.Gly1341Arg
ENST00000317961.8:c.4021G>A ENSP00000322408.4:p.Gly1341Arg
ENST00000382806.6:c.3850G>A ENSP00000372256.2:p.Gly1284Arg
ENST00000440077.5:c.3898G>A ENSP00000398543.1:p.Gly1300Arg
ENST00000469599.6:n.2619G>A
ENST00000492117.1:n.3913G>A
ENST00000541639.5:c.4114G>A ENSP00000444293.1:p.Gly1372Arg
NM_001146705.1:c.4114G>A NP_001140177.1:p.Gly1372Arg
NM_001146706.1:c.3850G>A NP_001140178.1:p.Gly1284Arg
NM_004653.4:c.4021G>A NP_004644.2:p.Gly1341Arg
XM_005262560.1:c.3886G>A XP_005262617.1:p.Gly1296Arg
XM_005262561.1:c.3790G>A XP_005262618.1:p.Gly1264Arg
XM_011531468.1:c.3943G>A XP_011529770.1:p.Gly1315Arg
XR_244571.2:n.4309G>A
XR_430568.2:n.4643G>A
XM_005262560.3:c.3886G>A XP_005262617.1:p.Gly1296Arg
XM_005262561.3:c.3790G>A XP_005262618.1:p.Gly1264Arg
XM_011531468.3:c.3943G>A XP_011529770.1:p.Gly1315Arg
XM_024452495.1:c.2011G>A XP_024308263.1:p.Gly671Arg
XM_024452496.1:c.1777G>A XP_024308264.1:p.Gly593Arg
XR_001756009.2:n.4759G>A
XR_001756010.2:n.4759G>A
XR_001756011.2:n.4624G>A
XR_001756012.2:n.4772G>A
XR_001756013.2:n.4090G>A
XR_002958832.1:n.4191G>A
XR_002958834.1:n.4415G>A
XR_002958835.1:n.4298G>A
XR_002958836.1:n.4981G>A
XR_002958837.1:n.4788G>A
XR_244571.4:n.4308G>A
XR_430568.4:n.4642G>A
NM_001146706.2:c.3850G>A NP_001140178.1:p.Gly1284Arg
NM_004653.5:c.4021G>A MANE Select NP_004644.2:p.Gly1341Arg
NM_001146705.2:c.4114G>A NP_001140177.1:p.Gly1372Arg