Canonical Allele Identifier: CA414844485
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708007G>T , CM000686.2:g.19708007G>T GRCh38
NC_000024.9:g.21869893G>T , CM000686.1:g.21869893G>T GRCh37
NC_000024.8:g.20329281G>T NCBI36
NG_032920.1:g.41933C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3326C>A MANE Select ENSP00000322408.4:p.Ala1109Glu
ENST00000317961.8:c.3326C>A ENSP00000322408.4:p.Ala1109Glu
ENST00000382806.6:c.3155C>A ENSP00000372256.2:p.Ala1052Glu
ENST00000415360.1:c.242C>A ENSP00000389433.1:p.Ala81Glu
ENST00000440077.5:c.3203C>A ENSP00000398543.1:p.Ala1068Glu
ENST00000469599.6:n.1924C>A
ENST00000492117.1:n.3218C>A
ENST00000541639.5:c.3419C>A ENSP00000444293.1:p.Ala1140Glu
NM_001146705.1:c.3419C>A NP_001140177.1:p.Ala1140Glu
NM_001146706.1:c.3155C>A NP_001140178.1:p.Ala1052Glu
NM_004653.4:c.3326C>A NP_004644.2:p.Ala1109Glu
XM_005262560.1:c.3191C>A XP_005262617.1:p.Ala1064Glu
XM_005262561.1:c.3095C>A XP_005262618.1:p.Ala1032Glu
XM_011531468.1:c.3248C>A XP_011529770.1:p.Ala1083Glu
XR_244571.2:n.3614C>A
XR_430568.2:n.3948C>A
XM_005262560.3:c.3191C>A XP_005262617.1:p.Ala1064Glu
XM_005262561.3:c.3095C>A XP_005262618.1:p.Ala1032Glu
XM_011531468.3:c.3248C>A XP_011529770.1:p.Ala1083Glu
XM_024452495.1:c.1316C>A XP_024308263.1:p.Ala439Glu
XM_024452496.1:c.1082C>A XP_024308264.1:p.Ala361Glu
XR_001756009.2:n.4064C>A
XR_001756010.2:n.4064C>A
XR_001756011.2:n.3929C>A
XR_001756012.2:n.4077C>A
XR_001756013.2:n.3395C>A
XR_002958832.1:n.3496C>A
XR_002958834.1:n.3720C>A
XR_002958835.1:n.3603C>A
XR_002958836.1:n.4286C>A
XR_002958837.1:n.4093C>A
XR_244571.4:n.3613C>A
XR_430568.4:n.3947C>A
NM_001146706.2:c.3155C>A NP_001140178.1:p.Ala1052Glu
NM_004653.5:c.3326C>A MANE Select NP_004644.2:p.Ala1109Glu
NM_001146705.2:c.3419C>A NP_001140177.1:p.Ala1140Glu