Canonical Allele Identifier: CA414844135
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707728C>T , CM000686.2:g.19707728C>T GRCh38
NC_000024.9:g.21869614C>T , CM000686.1:g.21869614C>T GRCh37
NC_000024.8:g.20329002C>T NCBI36
NG_032920.1:g.42212G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3418G>A MANE Select ENSP00000322408.4:p.Gly1140Arg
ENST00000317961.8:c.3418G>A ENSP00000322408.4:p.Gly1140Arg
ENST00000382806.6:c.3247G>A ENSP00000372256.2:p.Gly1083Arg
ENST00000415360.1:c.334G>A ENSP00000389433.1:p.Gly112Arg
ENST00000440077.5:c.3295G>A ENSP00000398543.1:p.Gly1099Arg
ENST00000469599.6:n.2016G>A
ENST00000492117.1:n.3310G>A
ENST00000541639.5:c.3511G>A ENSP00000444293.1:p.Gly1171Arg
NM_001146705.1:c.3511G>A NP_001140177.1:p.Gly1171Arg
NM_001146706.1:c.3247G>A NP_001140178.1:p.Gly1083Arg
NM_004653.4:c.3418G>A NP_004644.2:p.Gly1140Arg
XM_005262560.1:c.3283G>A XP_005262617.1:p.Gly1095Arg
XM_005262561.1:c.3187G>A XP_005262618.1:p.Gly1063Arg
XM_011531468.1:c.3340G>A XP_011529770.1:p.Gly1114Arg
XR_244571.2:n.3706G>A
XR_430568.2:n.4040G>A
XM_005262560.3:c.3283G>A XP_005262617.1:p.Gly1095Arg
XM_005262561.3:c.3187G>A XP_005262618.1:p.Gly1063Arg
XM_011531468.3:c.3340G>A XP_011529770.1:p.Gly1114Arg
XM_024452495.1:c.1408G>A XP_024308263.1:p.Gly470Arg
XM_024452496.1:c.1174G>A XP_024308264.1:p.Gly392Arg
XR_001756009.2:n.4156G>A
XR_001756010.2:n.4156G>A
XR_001756011.2:n.4021G>A
XR_001756012.2:n.4169G>A
XR_001756013.2:n.3487G>A
XR_002958832.1:n.3588G>A
XR_002958834.1:n.3812G>A
XR_002958835.1:n.3695G>A
XR_002958836.1:n.4378G>A
XR_002958837.1:n.4185G>A
XR_244571.4:n.3705G>A
XR_430568.4:n.4039G>A
NM_001146706.2:c.3247G>A NP_001140178.1:p.Gly1083Arg
NM_004653.5:c.3418G>A MANE Select NP_004644.2:p.Gly1140Arg
NM_001146705.2:c.3511G>A NP_001140177.1:p.Gly1171Arg