Canonical Allele Identifier: CA414843287
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707479A>C , CM000686.2:g.19707479A>C GRCh38
NC_000024.9:g.21869365A>C , CM000686.1:g.21869365A>C GRCh37
NC_000024.8:g.20328753A>C NCBI36
NG_032920.1:g.42461T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3667T>G MANE Select ENSP00000322408.4:p.Trp1223Gly
ENST00000317961.8:c.3667T>G ENSP00000322408.4:p.Trp1223Gly
ENST00000382806.6:c.3496T>G ENSP00000372256.2:p.Trp1166Gly
ENST00000415360.1:c.583T>G ENSP00000389433.1:p.Trp195Gly
ENST00000440077.5:c.3544T>G ENSP00000398543.1:p.Trp1182Gly
ENST00000469599.6:n.2265T>G
ENST00000492117.1:n.3559T>G
ENST00000541639.5:c.3760T>G ENSP00000444293.1:p.Trp1254Gly
NM_001146705.1:c.3760T>G NP_001140177.1:p.Trp1254Gly
NM_001146706.1:c.3496T>G NP_001140178.1:p.Trp1166Gly
NM_004653.4:c.3667T>G NP_004644.2:p.Trp1223Gly
XM_005262560.1:c.3532T>G XP_005262617.1:p.Trp1178Gly
XM_005262561.1:c.3436T>G XP_005262618.1:p.Trp1146Gly
XM_011531468.1:c.3589T>G XP_011529770.1:p.Trp1197Gly
XR_244571.2:n.3955T>G
XR_430568.2:n.4289T>G
XM_005262560.3:c.3532T>G XP_005262617.1:p.Trp1178Gly
XM_005262561.3:c.3436T>G XP_005262618.1:p.Trp1146Gly
XM_011531468.3:c.3589T>G XP_011529770.1:p.Trp1197Gly
XM_024452495.1:c.1657T>G XP_024308263.1:p.Trp553Gly
XM_024452496.1:c.1423T>G XP_024308264.1:p.Trp475Gly
XR_001756009.2:n.4405T>G
XR_001756010.2:n.4405T>G
XR_001756011.2:n.4270T>G
XR_001756012.2:n.4418T>G
XR_001756013.2:n.3736T>G
XR_002958832.1:n.3837T>G
XR_002958834.1:n.4061T>G
XR_002958835.1:n.3944T>G
XR_002958836.1:n.4627T>G
XR_002958837.1:n.4434T>G
XR_244571.4:n.3954T>G
XR_430568.4:n.4288T>G
NM_001146706.2:c.3496T>G NP_001140178.1:p.Trp1166Gly
NM_004653.5:c.3667T>G MANE Select NP_004644.2:p.Trp1223Gly
NM_001146705.2:c.3760T>G NP_001140177.1:p.Trp1254Gly