Canonical Allele Identifier: CA414843279
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707477C>T , CM000686.2:g.19707477C>T GRCh38
NC_000024.9:g.21869363C>T , CM000686.1:g.21869363C>T GRCh37
NC_000024.8:g.20328751C>T NCBI36
NG_032920.1:g.42463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3669G>A MANE Select ENSP00000322408.4:p.Trp1223Ter
ENST00000317961.8:c.3669G>A ENSP00000322408.4:p.Trp1223Ter
ENST00000382806.6:c.3498G>A ENSP00000372256.2:p.Trp1166Ter
ENST00000415360.1:c.585G>A ENSP00000389433.1:p.Trp195Ter
ENST00000440077.5:c.3546G>A ENSP00000398543.1:p.Trp1182Ter
ENST00000469599.6:n.2267G>A
ENST00000492117.1:n.3561G>A
ENST00000541639.5:c.3762G>A ENSP00000444293.1:p.Trp1254Ter
NM_001146705.1:c.3762G>A NP_001140177.1:p.Trp1254Ter
NM_001146706.1:c.3498G>A NP_001140178.1:p.Trp1166Ter
NM_004653.4:c.3669G>A NP_004644.2:p.Trp1223Ter
XM_005262560.1:c.3534G>A XP_005262617.1:p.Trp1178Ter
XM_005262561.1:c.3438G>A XP_005262618.1:p.Trp1146Ter
XM_011531468.1:c.3591G>A XP_011529770.1:p.Trp1197Ter
XR_244571.2:n.3957G>A
XR_430568.2:n.4291G>A
XM_005262560.3:c.3534G>A XP_005262617.1:p.Trp1178Ter
XM_005262561.3:c.3438G>A XP_005262618.1:p.Trp1146Ter
XM_011531468.3:c.3591G>A XP_011529770.1:p.Trp1197Ter
XM_024452495.1:c.1659G>A XP_024308263.1:p.Trp553Ter
XM_024452496.1:c.1425G>A XP_024308264.1:p.Trp475Ter
XR_001756009.2:n.4407G>A
XR_001756010.2:n.4407G>A
XR_001756011.2:n.4272G>A
XR_001756012.2:n.4420G>A
XR_001756013.2:n.3738G>A
XR_002958832.1:n.3839G>A
XR_002958834.1:n.4063G>A
XR_002958835.1:n.3946G>A
XR_002958836.1:n.4629G>A
XR_002958837.1:n.4436G>A
XR_244571.4:n.3956G>A
XR_430568.4:n.4290G>A
NM_001146706.2:c.3498G>A NP_001140178.1:p.Trp1166Ter
NM_004653.5:c.3669G>A MANE Select NP_004644.2:p.Trp1223Ter
NM_001146705.2:c.3762G>A NP_001140177.1:p.Trp1254Ter