Canonical Allele Identifier: CA414839993
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706069A>T , CM000686.2:g.19706069A>T GRCh38
NC_000024.9:g.21867955A>T , CM000686.1:g.21867955A>T GRCh37
NC_000024.8:g.20327343A>T NCBI36
NG_032920.1:g.43871T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4546T>A MANE Select ENSP00000322408.4:p.Ser1516Thr
ENST00000317961.8:c.4546T>A ENSP00000322408.4:p.Ser1516Thr
ENST00000382806.6:c.4375T>A ENSP00000372256.2:p.Ser1459Thr
ENST00000440077.5:c.4423T>A ENSP00000398543.1:p.Ser1475Thr
ENST00000469599.6:n.3297T>A
ENST00000492117.1:n.4591T>A
ENST00000541639.5:c.4639T>A ENSP00000444293.1:p.Ser1547Thr
NM_001146705.1:c.4639T>A NP_001140177.1:p.Ser1547Thr
NM_001146706.1:c.4375T>A NP_001140178.1:p.Ser1459Thr
NM_004653.4:c.4546T>A NP_004644.2:p.Ser1516Thr
XM_005262560.1:c.4411T>A XP_005262617.1:p.Ser1471Thr
XM_005262561.1:c.4315T>A XP_005262618.1:p.Ser1439Thr
XM_011531468.1:c.4468T>A XP_011529770.1:p.Ser1490Thr
XR_430568.2:n.5321T>A
XM_005262560.3:c.4411T>A XP_005262617.1:p.Ser1471Thr
XM_005262561.3:c.4315T>A XP_005262618.1:p.Ser1439Thr
XM_011531468.3:c.4468T>A XP_011529770.1:p.Ser1490Thr
XM_024452495.1:c.2536T>A XP_024308263.1:p.Ser846Thr
XM_024452496.1:c.2302T>A XP_024308264.1:p.Ser768Thr
XR_001756009.2:n.5284T>A
XR_001756010.2:n.5252T>A
XR_001756011.2:n.5149T>A
XR_001756012.2:n.5297T>A
XR_001756013.2:n.4615T>A
XR_002958832.1:n.4869T>A
XR_002958834.1:n.4940T>A
XR_002958835.1:n.4823T>A
XR_002958836.1:n.5474T>A
XR_002958837.1:n.5281T>A
XR_244571.4:n.4801T>A
XR_430568.4:n.5320T>A
NM_001146706.2:c.4375T>A NP_001140178.1:p.Ser1459Thr
NM_004653.5:c.4546T>A MANE Select NP_004644.2:p.Ser1516Thr
NM_001146705.2:c.4639T>A NP_001140177.1:p.Ser1547Thr