Canonical Allele Identifier: CA414844343
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707966A>C , CM000686.2:g.19707966A>C GRCh38
NC_000024.9:g.21869852A>C , CM000686.1:g.21869852A>C GRCh37
NC_000024.8:g.20329240A>C NCBI36
NG_032920.1:g.41974T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3367T>G MANE Select ENSP00000322408.4:p.Ser1123Ala
ENST00000317961.8:c.3367T>G ENSP00000322408.4:p.Ser1123Ala
ENST00000382806.6:c.3196T>G ENSP00000372256.2:p.Ser1066Ala
ENST00000415360.1:c.283T>G ENSP00000389433.1:p.Ser95Ala
ENST00000440077.5:c.3244T>G ENSP00000398543.1:p.Ser1082Ala
ENST00000469599.6:n.1965T>G
ENST00000492117.1:n.3259T>G
ENST00000541639.5:c.3460T>G ENSP00000444293.1:p.Ser1154Ala
NM_001146705.1:c.3460T>G NP_001140177.1:p.Ser1154Ala
NM_001146706.1:c.3196T>G NP_001140178.1:p.Ser1066Ala
NM_004653.4:c.3367T>G NP_004644.2:p.Ser1123Ala
XM_005262560.1:c.3232T>G XP_005262617.1:p.Ser1078Ala
XM_005262561.1:c.3136T>G XP_005262618.1:p.Ser1046Ala
XM_011531468.1:c.3289T>G XP_011529770.1:p.Ser1097Ala
XR_244571.2:n.3655T>G
XR_430568.2:n.3989T>G
XM_005262560.3:c.3232T>G XP_005262617.1:p.Ser1078Ala
XM_005262561.3:c.3136T>G XP_005262618.1:p.Ser1046Ala
XM_011531468.3:c.3289T>G XP_011529770.1:p.Ser1097Ala
XM_024452495.1:c.1357T>G XP_024308263.1:p.Ser453Ala
XM_024452496.1:c.1123T>G XP_024308264.1:p.Ser375Ala
XR_001756009.2:n.4105T>G
XR_001756010.2:n.4105T>G
XR_001756011.2:n.3970T>G
XR_001756012.2:n.4118T>G
XR_001756013.2:n.3436T>G
XR_002958832.1:n.3537T>G
XR_002958834.1:n.3761T>G
XR_002958835.1:n.3644T>G
XR_002958836.1:n.4327T>G
XR_002958837.1:n.4134T>G
XR_244571.4:n.3654T>G
XR_430568.4:n.3988T>G
NM_001146706.2:c.3196T>G NP_001140178.1:p.Ser1066Ala
NM_004653.5:c.3367T>G MANE Select NP_004644.2:p.Ser1123Ala
NM_001146705.2:c.3460T>G NP_001140177.1:p.Ser1154Ala