Canonical Allele Identifier: CA414844482
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3326C>G MANE Select ENSP00000322408.4:p.Ala1109Gly
ENST00000317961.8:c.3326C>G ENSP00000322408.4:p.Ala1109Gly
ENST00000382806.6:c.3155C>G ENSP00000372256.2:p.Ala1052Gly
ENST00000415360.1:c.242C>G ENSP00000389433.1:p.Ala81Gly
ENST00000440077.5:c.3203C>G ENSP00000398543.1:p.Ala1068Gly
ENST00000469599.6:n.1924C>G
ENST00000492117.1:n.3218C>G
ENST00000541639.5:c.3419C>G ENSP00000444293.1:p.Ala1140Gly
NM_001146705.1:c.3419C>G NP_001140177.1:p.Ala1140Gly
NM_001146706.1:c.3155C>G NP_001140178.1:p.Ala1052Gly
NM_004653.4:c.3326C>G NP_004644.2:p.Ala1109Gly
XM_005262560.1:c.3191C>G XP_005262617.1:p.Ala1064Gly
XM_005262561.1:c.3095C>G XP_005262618.1:p.Ala1032Gly
XM_011531468.1:c.3248C>G XP_011529770.1:p.Ala1083Gly
XR_244571.2:n.3614C>G
XR_430568.2:n.3948C>G
XM_005262560.3:c.3191C>G XP_005262617.1:p.Ala1064Gly
XM_005262561.3:c.3095C>G XP_005262618.1:p.Ala1032Gly
XM_011531468.3:c.3248C>G XP_011529770.1:p.Ala1083Gly
XM_024452495.1:c.1316C>G XP_024308263.1:p.Ala439Gly
XM_024452496.1:c.1082C>G XP_024308264.1:p.Ala361Gly
XR_001756009.2:n.4064C>G
XR_001756010.2:n.4064C>G
XR_001756011.2:n.3929C>G
XR_001756012.2:n.4077C>G
XR_001756013.2:n.3395C>G
XR_002958832.1:n.3496C>G
XR_002958834.1:n.3720C>G
XR_002958835.1:n.3603C>G
XR_002958836.1:n.4286C>G
XR_002958837.1:n.4093C>G
XR_244571.4:n.3613C>G
XR_430568.4:n.3947C>G
NM_001146706.2:c.3155C>G NP_001140178.1:p.Ala1052Gly
NM_004653.5:c.3326C>G MANE Select NP_004644.2:p.Ala1109Gly
NM_001146705.2:c.3419C>G NP_001140177.1:p.Ala1140Gly