Canonical Allele Identifier: CA414844004
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707676G>T , CM000686.2:g.19707676G>T GRCh38
NC_000024.9:g.21869562G>T , CM000686.1:g.21869562G>T GRCh37
NC_000024.8:g.20328950G>T NCBI36
NG_032920.1:g.42264C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3470C>A MANE Select ENSP00000322408.4:p.Ala1157Asp
ENST00000317961.8:c.3470C>A ENSP00000322408.4:p.Ala1157Asp
ENST00000382806.6:c.3299C>A ENSP00000372256.2:p.Ala1100Asp
ENST00000415360.1:c.386C>A ENSP00000389433.1:p.Ala129Asp
ENST00000440077.5:c.3347C>A ENSP00000398543.1:p.Ala1116Asp
ENST00000469599.6:n.2068C>A
ENST00000492117.1:n.3362C>A
ENST00000541639.5:c.3563C>A ENSP00000444293.1:p.Ala1188Asp
NM_001146705.1:c.3563C>A NP_001140177.1:p.Ala1188Asp
NM_001146706.1:c.3299C>A NP_001140178.1:p.Ala1100Asp
NM_004653.4:c.3470C>A NP_004644.2:p.Ala1157Asp
XM_005262560.1:c.3335C>A XP_005262617.1:p.Ala1112Asp
XM_005262561.1:c.3239C>A XP_005262618.1:p.Ala1080Asp
XM_011531468.1:c.3392C>A XP_011529770.1:p.Ala1131Asp
XR_244571.2:n.3758C>A
XR_430568.2:n.4092C>A
XM_005262560.3:c.3335C>A XP_005262617.1:p.Ala1112Asp
XM_005262561.3:c.3239C>A XP_005262618.1:p.Ala1080Asp
XM_011531468.3:c.3392C>A XP_011529770.1:p.Ala1131Asp
XM_024452495.1:c.1460C>A XP_024308263.1:p.Ala487Asp
XM_024452496.1:c.1226C>A XP_024308264.1:p.Ala409Asp
XR_001756009.2:n.4208C>A
XR_001756010.2:n.4208C>A
XR_001756011.2:n.4073C>A
XR_001756012.2:n.4221C>A
XR_001756013.2:n.3539C>A
XR_002958832.1:n.3640C>A
XR_002958834.1:n.3864C>A
XR_002958835.1:n.3747C>A
XR_002958836.1:n.4430C>A
XR_002958837.1:n.4237C>A
XR_244571.4:n.3757C>A
XR_430568.4:n.4091C>A
NM_001146706.2:c.3299C>A NP_001140178.1:p.Ala1100Asp
NM_004653.5:c.3470C>A MANE Select NP_004644.2:p.Ala1157Asp
NM_001146705.2:c.3563C>A NP_001140177.1:p.Ala1188Asp