Canonical Allele Identifier: CA414843372
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707507A>C , CM000686.2:g.19707507A>C GRCh38
NC_000024.9:g.21869393A>C , CM000686.1:g.21869393A>C GRCh37
NC_000024.8:g.20328781A>C NCBI36
NG_032920.1:g.42433T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3639T>G MANE Select ENSP00000322408.4:p.Ser1213Arg
ENST00000317961.8:c.3639T>G ENSP00000322408.4:p.Ser1213Arg
ENST00000382806.6:c.3468T>G ENSP00000372256.2:p.Ser1156Arg
ENST00000415360.1:c.555T>G ENSP00000389433.1:p.Ser185Arg
ENST00000440077.5:c.3516T>G ENSP00000398543.1:p.Ser1172Arg
ENST00000469599.6:n.2237T>G
ENST00000492117.1:n.3531T>G
ENST00000541639.5:c.3732T>G ENSP00000444293.1:p.Ser1244Arg
NM_001146705.1:c.3732T>G NP_001140177.1:p.Ser1244Arg
NM_001146706.1:c.3468T>G NP_001140178.1:p.Ser1156Arg
NM_004653.4:c.3639T>G NP_004644.2:p.Ser1213Arg
XM_005262560.1:c.3504T>G XP_005262617.1:p.Ser1168Arg
XM_005262561.1:c.3408T>G XP_005262618.1:p.Ser1136Arg
XM_011531468.1:c.3561T>G XP_011529770.1:p.Ser1187Arg
XR_244571.2:n.3927T>G
XR_430568.2:n.4261T>G
XM_005262560.3:c.3504T>G XP_005262617.1:p.Ser1168Arg
XM_005262561.3:c.3408T>G XP_005262618.1:p.Ser1136Arg
XM_011531468.3:c.3561T>G XP_011529770.1:p.Ser1187Arg
XM_024452495.1:c.1629T>G XP_024308263.1:p.Ser543Arg
XM_024452496.1:c.1395T>G XP_024308264.1:p.Ser465Arg
XR_001756009.2:n.4377T>G
XR_001756010.2:n.4377T>G
XR_001756011.2:n.4242T>G
XR_001756012.2:n.4390T>G
XR_001756013.2:n.3708T>G
XR_002958832.1:n.3809T>G
XR_002958834.1:n.4033T>G
XR_002958835.1:n.3916T>G
XR_002958836.1:n.4599T>G
XR_002958837.1:n.4406T>G
XR_244571.4:n.3926T>G
XR_430568.4:n.4260T>G
NM_001146706.2:c.3468T>G NP_001140178.1:p.Ser1156Arg
NM_004653.5:c.3639T>G MANE Select NP_004644.2:p.Ser1213Arg
NM_001146705.2:c.3732T>G NP_001140177.1:p.Ser1244Arg