Canonical Allele Identifier: CA414843739
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707601G>C , CM000686.2:g.19707601G>C GRCh38
NC_000024.9:g.21869487G>C , CM000686.1:g.21869487G>C GRCh37
NC_000024.8:g.20328875G>C NCBI36
NG_032920.1:g.42339C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3545C>G MANE Select ENSP00000322408.4:p.Ala1182Gly
ENST00000317961.8:c.3545C>G ENSP00000322408.4:p.Ala1182Gly
ENST00000382806.6:c.3374C>G ENSP00000372256.2:p.Ala1125Gly
ENST00000415360.1:c.461C>G ENSP00000389433.1:p.Ala154Gly
ENST00000440077.5:c.3422C>G ENSP00000398543.1:p.Ala1141Gly
ENST00000469599.6:n.2143C>G
ENST00000492117.1:n.3437C>G
ENST00000541639.5:c.3638C>G ENSP00000444293.1:p.Ala1213Gly
NM_001146705.1:c.3638C>G NP_001140177.1:p.Ala1213Gly
NM_001146706.1:c.3374C>G NP_001140178.1:p.Ala1125Gly
NM_004653.4:c.3545C>G NP_004644.2:p.Ala1182Gly
XM_005262560.1:c.3410C>G XP_005262617.1:p.Ala1137Gly
XM_005262561.1:c.3314C>G XP_005262618.1:p.Ala1105Gly
XM_011531468.1:c.3467C>G XP_011529770.1:p.Ala1156Gly
XR_244571.2:n.3833C>G
XR_430568.2:n.4167C>G
XM_005262560.3:c.3410C>G XP_005262617.1:p.Ala1137Gly
XM_005262561.3:c.3314C>G XP_005262618.1:p.Ala1105Gly
XM_011531468.3:c.3467C>G XP_011529770.1:p.Ala1156Gly
XM_024452495.1:c.1535C>G XP_024308263.1:p.Ala512Gly
XM_024452496.1:c.1301C>G XP_024308264.1:p.Ala434Gly
XR_001756009.2:n.4283C>G
XR_001756010.2:n.4283C>G
XR_001756011.2:n.4148C>G
XR_001756012.2:n.4296C>G
XR_001756013.2:n.3614C>G
XR_002958832.1:n.3715C>G
XR_002958834.1:n.3939C>G
XR_002958835.1:n.3822C>G
XR_002958836.1:n.4505C>G
XR_002958837.1:n.4312C>G
XR_244571.4:n.3832C>G
XR_430568.4:n.4166C>G
NM_001146706.2:c.3374C>G NP_001140178.1:p.Ala1125Gly
NM_004653.5:c.3545C>G MANE Select NP_004644.2:p.Ala1182Gly
NM_001146705.2:c.3638C>G NP_001140177.1:p.Ala1213Gly