Canonical Allele Identifier: CA414844420
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707990A>C , CM000686.2:g.19707990A>C GRCh38
NC_000024.9:g.21869876A>C , CM000686.1:g.21869876A>C GRCh37
NC_000024.8:g.20329264A>C NCBI36
NG_032920.1:g.41950T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3343T>G MANE Select ENSP00000322408.4:p.Cys1115Gly
ENST00000317961.8:c.3343T>G ENSP00000322408.4:p.Cys1115Gly
ENST00000382806.6:c.3172T>G ENSP00000372256.2:p.Cys1058Gly
ENST00000415360.1:c.259T>G ENSP00000389433.1:p.Cys87Gly
ENST00000440077.5:c.3220T>G ENSP00000398543.1:p.Cys1074Gly
ENST00000469599.6:n.1941T>G
ENST00000492117.1:n.3235T>G
ENST00000541639.5:c.3436T>G ENSP00000444293.1:p.Cys1146Gly
NM_001146705.1:c.3436T>G NP_001140177.1:p.Cys1146Gly
NM_001146706.1:c.3172T>G NP_001140178.1:p.Cys1058Gly
NM_004653.4:c.3343T>G NP_004644.2:p.Cys1115Gly
XM_005262560.1:c.3208T>G XP_005262617.1:p.Cys1070Gly
XM_005262561.1:c.3112T>G XP_005262618.1:p.Cys1038Gly
XM_011531468.1:c.3265T>G XP_011529770.1:p.Cys1089Gly
XR_244571.2:n.3631T>G
XR_430568.2:n.3965T>G
XM_005262560.3:c.3208T>G XP_005262617.1:p.Cys1070Gly
XM_005262561.3:c.3112T>G XP_005262618.1:p.Cys1038Gly
XM_011531468.3:c.3265T>G XP_011529770.1:p.Cys1089Gly
XM_024452495.1:c.1333T>G XP_024308263.1:p.Cys445Gly
XM_024452496.1:c.1099T>G XP_024308264.1:p.Cys367Gly
XR_001756009.2:n.4081T>G
XR_001756010.2:n.4081T>G
XR_001756011.2:n.3946T>G
XR_001756012.2:n.4094T>G
XR_001756013.2:n.3412T>G
XR_002958832.1:n.3513T>G
XR_002958834.1:n.3737T>G
XR_002958835.1:n.3620T>G
XR_002958836.1:n.4303T>G
XR_002958837.1:n.4110T>G
XR_244571.4:n.3630T>G
XR_430568.4:n.3964T>G
NM_001146706.2:c.3172T>G NP_001140178.1:p.Cys1058Gly
NM_004653.5:c.3343T>G MANE Select NP_004644.2:p.Cys1115Gly
NM_001146705.2:c.3436T>G NP_001140177.1:p.Cys1146Gly