Canonical Allele Identifier: CA414844441
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707995T>C , CM000686.2:g.19707995T>C GRCh38
NC_000024.9:g.21869881T>C , CM000686.1:g.21869881T>C GRCh37
NC_000024.8:g.20329269T>C NCBI36
NG_032920.1:g.41945A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3338A>G MANE Select ENSP00000322408.4:p.Tyr1113Cys
ENST00000317961.8:c.3338A>G ENSP00000322408.4:p.Tyr1113Cys
ENST00000382806.6:c.3167A>G ENSP00000372256.2:p.Tyr1056Cys
ENST00000415360.1:c.254A>G ENSP00000389433.1:p.Tyr85Cys
ENST00000440077.5:c.3215A>G ENSP00000398543.1:p.Tyr1072Cys
ENST00000469599.6:n.1936A>G
ENST00000492117.1:n.3230A>G
ENST00000541639.5:c.3431A>G ENSP00000444293.1:p.Tyr1144Cys
NM_001146705.1:c.3431A>G NP_001140177.1:p.Tyr1144Cys
NM_001146706.1:c.3167A>G NP_001140178.1:p.Tyr1056Cys
NM_004653.4:c.3338A>G NP_004644.2:p.Tyr1113Cys
XM_005262560.1:c.3203A>G XP_005262617.1:p.Tyr1068Cys
XM_005262561.1:c.3107A>G XP_005262618.1:p.Tyr1036Cys
XM_011531468.1:c.3260A>G XP_011529770.1:p.Tyr1087Cys
XR_244571.2:n.3626A>G
XR_430568.2:n.3960A>G
XM_005262560.3:c.3203A>G XP_005262617.1:p.Tyr1068Cys
XM_005262561.3:c.3107A>G XP_005262618.1:p.Tyr1036Cys
XM_011531468.3:c.3260A>G XP_011529770.1:p.Tyr1087Cys
XM_024452495.1:c.1328A>G XP_024308263.1:p.Tyr443Cys
XM_024452496.1:c.1094A>G XP_024308264.1:p.Tyr365Cys
XR_001756009.2:n.4076A>G
XR_001756010.2:n.4076A>G
XR_001756011.2:n.3941A>G
XR_001756012.2:n.4089A>G
XR_001756013.2:n.3407A>G
XR_002958832.1:n.3508A>G
XR_002958834.1:n.3732A>G
XR_002958835.1:n.3615A>G
XR_002958836.1:n.4298A>G
XR_002958837.1:n.4105A>G
XR_244571.4:n.3625A>G
XR_430568.4:n.3959A>G
NM_001146706.2:c.3167A>G NP_001140178.1:p.Tyr1056Cys
NM_004653.5:c.3338A>G MANE Select NP_004644.2:p.Tyr1113Cys
NM_001146705.2:c.3431A>G NP_001140177.1:p.Tyr1144Cys