Canonical Allele Identifier: CA414841870
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706799C>T , CM000686.2:g.19706799C>T GRCh38
NC_000024.9:g.21868685C>T , CM000686.1:g.21868685C>T GRCh37
NC_000024.8:g.20328073C>T NCBI36
NG_032920.1:g.43141G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4064G>A MANE Select ENSP00000322408.4:p.Gly1355Asp
ENST00000317961.8:c.4064G>A ENSP00000322408.4:p.Gly1355Asp
ENST00000382806.6:c.3893G>A ENSP00000372256.2:p.Gly1298Asp
ENST00000440077.5:c.3941G>A ENSP00000398543.1:p.Gly1314Asp
ENST00000469599.6:n.2662G>A
ENST00000492117.1:n.3956G>A
ENST00000541639.5:c.4157G>A ENSP00000444293.1:p.Gly1386Asp
NM_001146705.1:c.4157G>A NP_001140177.1:p.Gly1386Asp
NM_001146706.1:c.3893G>A NP_001140178.1:p.Gly1298Asp
NM_004653.4:c.4064G>A NP_004644.2:p.Gly1355Asp
XM_005262560.1:c.3929G>A XP_005262617.1:p.Gly1310Asp
XM_005262561.1:c.3833G>A XP_005262618.1:p.Gly1278Asp
XM_011531468.1:c.3986G>A XP_011529770.1:p.Gly1329Asp
XR_244571.2:n.4352G>A
XR_430568.2:n.4686G>A
XM_005262560.3:c.3929G>A XP_005262617.1:p.Gly1310Asp
XM_005262561.3:c.3833G>A XP_005262618.1:p.Gly1278Asp
XM_011531468.3:c.3986G>A XP_011529770.1:p.Gly1329Asp
XM_024452495.1:c.2054G>A XP_024308263.1:p.Gly685Asp
XM_024452496.1:c.1820G>A XP_024308264.1:p.Gly607Asp
XR_001756009.2:n.4802G>A
XR_001756010.2:n.4802G>A
XR_001756011.2:n.4667G>A
XR_001756012.2:n.4815G>A
XR_001756013.2:n.4133G>A
XR_002958832.1:n.4234G>A
XR_002958834.1:n.4458G>A
XR_002958835.1:n.4341G>A
XR_002958836.1:n.5024G>A
XR_002958837.1:n.4831G>A
XR_244571.4:n.4351G>A
XR_430568.4:n.4685G>A
NM_001146706.2:c.3893G>A NP_001140178.1:p.Gly1298Asp
NM_004653.5:c.4064G>A MANE Select NP_004644.2:p.Gly1355Asp
NM_001146705.2:c.4157G>A NP_001140177.1:p.Gly1386Asp