Canonical Allele Identifier: CA414839948
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706056G>T , CM000686.2:g.19706056G>T GRCh38
NC_000024.9:g.21867942G>T , CM000686.1:g.21867942G>T GRCh37
NC_000024.8:g.20327330G>T NCBI36
NG_032920.1:g.43884C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4559C>A MANE Select ENSP00000322408.4:p.Ala1520Asp
ENST00000317961.8:c.4559C>A ENSP00000322408.4:p.Ala1520Asp
ENST00000382806.6:c.4388C>A ENSP00000372256.2:p.Ala1463Asp
ENST00000469599.6:n.3310C>A
ENST00000492117.1:n.4604C>A
ENST00000541639.5:c.4652C>A ENSP00000444293.1:p.Ala1551Asp
NM_001146705.1:c.4652C>A NP_001140177.1:p.Ala1551Asp
NM_001146706.1:c.4388C>A NP_001140178.1:p.Ala1463Asp
NM_004653.4:c.4559C>A NP_004644.2:p.Ala1520Asp
XM_005262560.1:c.4424C>A XP_005262617.1:p.Ala1475Asp
XM_005262561.1:c.4328C>A XP_005262618.1:p.Ala1443Asp
XM_011531468.1:c.4481C>A XP_011529770.1:p.Ala1494Asp
XR_430568.2:n.5334C>A
XM_005262560.3:c.4424C>A XP_005262617.1:p.Ala1475Asp
XM_005262561.3:c.4328C>A XP_005262618.1:p.Ala1443Asp
XM_011531468.3:c.4481C>A XP_011529770.1:p.Ala1494Asp
XM_024452495.1:c.2549C>A XP_024308263.1:p.Ala850Asp
XM_024452496.1:c.2315C>A XP_024308264.1:p.Ala772Asp
XR_001756009.2:n.5297C>A
XR_001756010.2:n.5265C>A
XR_001756011.2:n.5162C>A
XR_001756012.2:n.5310C>A
XR_001756013.2:n.4628C>A
XR_002958832.1:n.4882C>A
XR_002958834.1:n.4953C>A
XR_002958835.1:n.4836C>A
XR_002958836.1:n.5487C>A
XR_002958837.1:n.5294C>A
XR_244571.4:n.4814C>A
XR_430568.4:n.5333C>A
NM_001146706.2:c.4388C>A NP_001140178.1:p.Ala1463Asp
NM_004653.5:c.4559C>A MANE Select NP_004644.2:p.Ala1520Asp
NM_001146705.2:c.4652C>A NP_001140177.1:p.Ala1551Asp