Canonical Allele Identifier: CA414844745
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708059A>C , CM000686.2:g.19708059A>C GRCh38
NC_000024.9:g.21869945A>C , CM000686.1:g.21869945A>C GRCh37
NC_000024.8:g.20329333A>C NCBI36
NG_032920.1:g.41881T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3274T>G MANE Select ENSP00000322408.4:p.Cys1092Gly
ENST00000317961.8:c.3274T>G ENSP00000322408.4:p.Cys1092Gly
ENST00000382806.6:c.3103T>G ENSP00000372256.2:p.Cys1035Gly
ENST00000415360.1:c.190T>G ENSP00000389433.1:p.Cys64Gly
ENST00000440077.5:c.3151T>G ENSP00000398543.1:p.Cys1051Gly
ENST00000469599.6:n.1872T>G
ENST00000492117.1:n.3166T>G
ENST00000541639.5:c.3367T>G ENSP00000444293.1:p.Cys1123Gly
NM_001146705.1:c.3367T>G NP_001140177.1:p.Cys1123Gly
NM_001146706.1:c.3103T>G NP_001140178.1:p.Cys1035Gly
NM_004653.4:c.3274T>G NP_004644.2:p.Cys1092Gly
XM_005262560.1:c.3139T>G XP_005262617.1:p.Cys1047Gly
XM_005262561.1:c.3043T>G XP_005262618.1:p.Cys1015Gly
XM_011531468.1:c.3196T>G XP_011529770.1:p.Cys1066Gly
XR_244571.2:n.3562T>G
XR_430568.2:n.3896T>G
XM_005262560.3:c.3139T>G XP_005262617.1:p.Cys1047Gly
XM_005262561.3:c.3043T>G XP_005262618.1:p.Cys1015Gly
XM_011531468.3:c.3196T>G XP_011529770.1:p.Cys1066Gly
XM_024452495.1:c.1264T>G XP_024308263.1:p.Cys422Gly
XM_024452496.1:c.1030T>G XP_024308264.1:p.Cys344Gly
XR_001756009.2:n.4012T>G
XR_001756010.2:n.4012T>G
XR_001756011.2:n.3877T>G
XR_001756012.2:n.4025T>G
XR_001756013.2:n.3343T>G
XR_002958832.1:n.3444T>G
XR_002958834.1:n.3668T>G
XR_002958835.1:n.3551T>G
XR_002958836.1:n.4234T>G
XR_002958837.1:n.4041T>G
XR_244571.4:n.3561T>G
XR_430568.4:n.3895T>G
NM_001146706.2:c.3103T>G NP_001140178.1:p.Cys1035Gly
NM_004653.5:c.3274T>G MANE Select NP_004644.2:p.Cys1092Gly
NM_001146705.2:c.3367T>G NP_001140177.1:p.Cys1123Gly