Canonical Allele Identifier: CA414843731
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707598C>T , CM000686.2:g.19707598C>T GRCh38
NC_000024.9:g.21869484C>T , CM000686.1:g.21869484C>T GRCh37
NC_000024.8:g.20328872C>T NCBI36
NG_032920.1:g.42342G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3548G>A MANE Select ENSP00000322408.4:p.Gly1183Glu
ENST00000317961.8:c.3548G>A ENSP00000322408.4:p.Gly1183Glu
ENST00000382806.6:c.3377G>A ENSP00000372256.2:p.Gly1126Glu
ENST00000415360.1:c.464G>A ENSP00000389433.1:p.Gly155Glu
ENST00000440077.5:c.3425G>A ENSP00000398543.1:p.Gly1142Glu
ENST00000469599.6:n.2146G>A
ENST00000492117.1:n.3440G>A
ENST00000541639.5:c.3641G>A ENSP00000444293.1:p.Gly1214Glu
NM_001146705.1:c.3641G>A NP_001140177.1:p.Gly1214Glu
NM_001146706.1:c.3377G>A NP_001140178.1:p.Gly1126Glu
NM_004653.4:c.3548G>A NP_004644.2:p.Gly1183Glu
XM_005262560.1:c.3413G>A XP_005262617.1:p.Gly1138Glu
XM_005262561.1:c.3317G>A XP_005262618.1:p.Gly1106Glu
XM_011531468.1:c.3470G>A XP_011529770.1:p.Gly1157Glu
XR_244571.2:n.3836G>A
XR_430568.2:n.4170G>A
XM_005262560.3:c.3413G>A XP_005262617.1:p.Gly1138Glu
XM_005262561.3:c.3317G>A XP_005262618.1:p.Gly1106Glu
XM_011531468.3:c.3470G>A XP_011529770.1:p.Gly1157Glu
XM_024452495.1:c.1538G>A XP_024308263.1:p.Gly513Glu
XM_024452496.1:c.1304G>A XP_024308264.1:p.Gly435Glu
XR_001756009.2:n.4286G>A
XR_001756010.2:n.4286G>A
XR_001756011.2:n.4151G>A
XR_001756012.2:n.4299G>A
XR_001756013.2:n.3617G>A
XR_002958832.1:n.3718G>A
XR_002958834.1:n.3942G>A
XR_002958835.1:n.3825G>A
XR_002958836.1:n.4508G>A
XR_002958837.1:n.4315G>A
XR_244571.4:n.3835G>A
XR_430568.4:n.4169G>A
NM_001146706.2:c.3377G>A NP_001140178.1:p.Gly1126Glu
NM_004653.5:c.3548G>A MANE Select NP_004644.2:p.Gly1183Glu
NM_001146705.2:c.3641G>A NP_001140177.1:p.Gly1214Glu