Canonical Allele Identifier: CA414843255
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707472C>T , CM000686.2:g.19707472C>T GRCh38
NC_000024.9:g.21869358C>T , CM000686.1:g.21869358C>T GRCh37
NC_000024.8:g.20328746C>T NCBI36
NG_032920.1:g.42468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3674G>A MANE Select ENSP00000322408.4:p.Trp1225Ter
ENST00000317961.8:c.3674G>A ENSP00000322408.4:p.Trp1225Ter
ENST00000382806.6:c.3503G>A ENSP00000372256.2:p.Trp1168Ter
ENST00000415360.1:c.590G>A ENSP00000389433.1:p.Trp197Ter
ENST00000440077.5:c.3551G>A ENSP00000398543.1:p.Trp1184Ter
ENST00000469599.6:n.2272G>A
ENST00000492117.1:n.3566G>A
ENST00000541639.5:c.3767G>A ENSP00000444293.1:p.Trp1256Ter
NM_001146705.1:c.3767G>A NP_001140177.1:p.Trp1256Ter
NM_001146706.1:c.3503G>A NP_001140178.1:p.Trp1168Ter
NM_004653.4:c.3674G>A NP_004644.2:p.Trp1225Ter
XM_005262560.1:c.3539G>A XP_005262617.1:p.Trp1180Ter
XM_005262561.1:c.3443G>A XP_005262618.1:p.Trp1148Ter
XM_011531468.1:c.3596G>A XP_011529770.1:p.Trp1199Ter
XR_244571.2:n.3962G>A
XR_430568.2:n.4296G>A
XM_005262560.3:c.3539G>A XP_005262617.1:p.Trp1180Ter
XM_005262561.3:c.3443G>A XP_005262618.1:p.Trp1148Ter
XM_011531468.3:c.3596G>A XP_011529770.1:p.Trp1199Ter
XM_024452495.1:c.1664G>A XP_024308263.1:p.Trp555Ter
XM_024452496.1:c.1430G>A XP_024308264.1:p.Trp477Ter
XR_001756009.2:n.4412G>A
XR_001756010.2:n.4412G>A
XR_001756011.2:n.4277G>A
XR_001756012.2:n.4425G>A
XR_001756013.2:n.3743G>A
XR_002958832.1:n.3844G>A
XR_002958834.1:n.4068G>A
XR_002958835.1:n.3951G>A
XR_002958836.1:n.4634G>A
XR_002958837.1:n.4441G>A
XR_244571.4:n.3961G>A
XR_430568.4:n.4295G>A
NM_001146706.2:c.3503G>A NP_001140178.1:p.Trp1168Ter
NM_004653.5:c.3674G>A MANE Select NP_004644.2:p.Trp1225Ter
NM_001146705.2:c.3767G>A NP_001140177.1:p.Trp1256Ter