Canonical Allele Identifier: CA414844737
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708057A>T , CM000686.2:g.19708057A>T GRCh38
NC_000024.9:g.21869943A>T , CM000686.1:g.21869943A>T GRCh37
NC_000024.8:g.20329331A>T NCBI36
NG_032920.1:g.41883T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3276T>A MANE Select ENSP00000322408.4:p.Cys1092Ter
ENST00000317961.8:c.3276T>A ENSP00000322408.4:p.Cys1092Ter
ENST00000382806.6:c.3105T>A ENSP00000372256.2:p.Cys1035Ter
ENST00000415360.1:c.192T>A ENSP00000389433.1:p.Cys64Ter
ENST00000440077.5:c.3153T>A ENSP00000398543.1:p.Cys1051Ter
ENST00000469599.6:n.1874T>A
ENST00000492117.1:n.3168T>A
ENST00000541639.5:c.3369T>A ENSP00000444293.1:p.Cys1123Ter
NM_001146705.1:c.3369T>A NP_001140177.1:p.Cys1123Ter
NM_001146706.1:c.3105T>A NP_001140178.1:p.Cys1035Ter
NM_004653.4:c.3276T>A NP_004644.2:p.Cys1092Ter
XM_005262560.1:c.3141T>A XP_005262617.1:p.Cys1047Ter
XM_005262561.1:c.3045T>A XP_005262618.1:p.Cys1015Ter
XM_011531468.1:c.3198T>A XP_011529770.1:p.Cys1066Ter
XR_244571.2:n.3564T>A
XR_430568.2:n.3898T>A
XM_005262560.3:c.3141T>A XP_005262617.1:p.Cys1047Ter
XM_005262561.3:c.3045T>A XP_005262618.1:p.Cys1015Ter
XM_011531468.3:c.3198T>A XP_011529770.1:p.Cys1066Ter
XM_024452495.1:c.1266T>A XP_024308263.1:p.Cys422Ter
XM_024452496.1:c.1032T>A XP_024308264.1:p.Cys344Ter
XR_001756009.2:n.4014T>A
XR_001756010.2:n.4014T>A
XR_001756011.2:n.3879T>A
XR_001756012.2:n.4027T>A
XR_001756013.2:n.3345T>A
XR_002958832.1:n.3446T>A
XR_002958834.1:n.3670T>A
XR_002958835.1:n.3553T>A
XR_002958836.1:n.4236T>A
XR_002958837.1:n.4043T>A
XR_244571.4:n.3563T>A
XR_430568.4:n.3897T>A
NM_001146706.2:c.3105T>A NP_001140178.1:p.Cys1035Ter
NM_004653.5:c.3276T>A MANE Select NP_004644.2:p.Cys1092Ter
NM_001146705.2:c.3369T>A NP_001140177.1:p.Cys1123Ter