Canonical Allele Identifier: CA414844635
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708035T>C , CM000686.2:g.19708035T>C GRCh38
NC_000024.9:g.21869921T>C , CM000686.1:g.21869921T>C GRCh37
NC_000024.8:g.20329309T>C NCBI36
NG_032920.1:g.41905A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3298A>G MANE Select ENSP00000322408.4:p.Thr1100Ala
ENST00000317961.8:c.3298A>G ENSP00000322408.4:p.Thr1100Ala
ENST00000382806.6:c.3127A>G ENSP00000372256.2:p.Thr1043Ala
ENST00000415360.1:c.214A>G ENSP00000389433.1:p.Thr72Ala
ENST00000440077.5:c.3175A>G ENSP00000398543.1:p.Thr1059Ala
ENST00000469599.6:n.1896A>G
ENST00000492117.1:n.3190A>G
ENST00000541639.5:c.3391A>G ENSP00000444293.1:p.Thr1131Ala
NM_001146705.1:c.3391A>G NP_001140177.1:p.Thr1131Ala
NM_001146706.1:c.3127A>G NP_001140178.1:p.Thr1043Ala
NM_004653.4:c.3298A>G NP_004644.2:p.Thr1100Ala
XM_005262560.1:c.3163A>G XP_005262617.1:p.Thr1055Ala
XM_005262561.1:c.3067A>G XP_005262618.1:p.Thr1023Ala
XM_011531468.1:c.3220A>G XP_011529770.1:p.Thr1074Ala
XR_244571.2:n.3586A>G
XR_430568.2:n.3920A>G
XM_005262560.3:c.3163A>G XP_005262617.1:p.Thr1055Ala
XM_005262561.3:c.3067A>G XP_005262618.1:p.Thr1023Ala
XM_011531468.3:c.3220A>G XP_011529770.1:p.Thr1074Ala
XM_024452495.1:c.1288A>G XP_024308263.1:p.Thr430Ala
XM_024452496.1:c.1054A>G XP_024308264.1:p.Thr352Ala
XR_001756009.2:n.4036A>G
XR_001756010.2:n.4036A>G
XR_001756011.2:n.3901A>G
XR_001756012.2:n.4049A>G
XR_001756013.2:n.3367A>G
XR_002958832.1:n.3468A>G
XR_002958834.1:n.3692A>G
XR_002958835.1:n.3575A>G
XR_002958836.1:n.4258A>G
XR_002958837.1:n.4065A>G
XR_244571.4:n.3585A>G
XR_430568.4:n.3919A>G
NM_001146706.2:c.3127A>G NP_001140178.1:p.Thr1043Ala
NM_004653.5:c.3298A>G MANE Select NP_004644.2:p.Thr1100Ala
NM_001146705.2:c.3391A>G NP_001140177.1:p.Thr1131Ala