Canonical Allele Identifier: CA414839934
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706051A>T , CM000686.2:g.19706051A>T GRCh38
NC_000024.9:g.21867937A>T , CM000686.1:g.21867937A>T GRCh37
NC_000024.8:g.20327325A>T NCBI36
NG_032920.1:g.43889T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4564T>A MANE Select ENSP00000322408.4:p.Cys1522Ser
ENST00000317961.8:c.4564T>A ENSP00000322408.4:p.Cys1522Ser
ENST00000382806.6:c.4393T>A ENSP00000372256.2:p.Cys1465Ser
ENST00000469599.6:n.3315T>A
ENST00000492117.1:n.4609T>A
ENST00000541639.5:c.4657T>A ENSP00000444293.1:p.Cys1553Ser
NM_001146705.1:c.4657T>A NP_001140177.1:p.Cys1553Ser
NM_001146706.1:c.4393T>A NP_001140178.1:p.Cys1465Ser
NM_004653.4:c.4564T>A NP_004644.2:p.Cys1522Ser
XM_005262560.1:c.4429T>A XP_005262617.1:p.Cys1477Ser
XM_005262561.1:c.4333T>A XP_005262618.1:p.Cys1445Ser
XM_011531468.1:c.4486T>A XP_011529770.1:p.Cys1496Ser
XR_430568.2:n.5339T>A
XM_005262560.3:c.4429T>A XP_005262617.1:p.Cys1477Ser
XM_005262561.3:c.4333T>A XP_005262618.1:p.Cys1445Ser
XM_011531468.3:c.4486T>A XP_011529770.1:p.Cys1496Ser
XM_024452495.1:c.2554T>A XP_024308263.1:p.Cys852Ser
XM_024452496.1:c.2320T>A XP_024308264.1:p.Cys774Ser
XR_001756009.2:n.5302T>A
XR_001756010.2:n.5270T>A
XR_001756011.2:n.5167T>A
XR_001756012.2:n.5315T>A
XR_001756013.2:n.4633T>A
XR_002958832.1:n.4887T>A
XR_002958834.1:n.4958T>A
XR_002958835.1:n.4841T>A
XR_002958836.1:n.5492T>A
XR_002958837.1:n.5299T>A
XR_244571.4:n.4819T>A
XR_430568.4:n.5338T>A
NM_001146706.2:c.4393T>A NP_001140178.1:p.Cys1465Ser
NM_004653.5:c.4564T>A MANE Select NP_004644.2:p.Cys1522Ser
NM_001146705.2:c.4657T>A NP_001140177.1:p.Cys1553Ser