Canonical Allele Identifier: CA414844355
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707971C>T , CM000686.2:g.19707971C>T GRCh38
NC_000024.9:g.21869857C>T , CM000686.1:g.21869857C>T GRCh37
NC_000024.8:g.20329245C>T NCBI36
NG_032920.1:g.41969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3362G>A MANE Select ENSP00000322408.4:p.Gly1121Glu
ENST00000317961.8:c.3362G>A ENSP00000322408.4:p.Gly1121Glu
ENST00000382806.6:c.3191G>A ENSP00000372256.2:p.Gly1064Glu
ENST00000415360.1:c.278G>A ENSP00000389433.1:p.Gly93Glu
ENST00000440077.5:c.3239G>A ENSP00000398543.1:p.Gly1080Glu
ENST00000469599.6:n.1960G>A
ENST00000492117.1:n.3254G>A
ENST00000541639.5:c.3455G>A ENSP00000444293.1:p.Gly1152Glu
NM_001146705.1:c.3455G>A NP_001140177.1:p.Gly1152Glu
NM_001146706.1:c.3191G>A NP_001140178.1:p.Gly1064Glu
NM_004653.4:c.3362G>A NP_004644.2:p.Gly1121Glu
XM_005262560.1:c.3227G>A XP_005262617.1:p.Gly1076Glu
XM_005262561.1:c.3131G>A XP_005262618.1:p.Gly1044Glu
XM_011531468.1:c.3284G>A XP_011529770.1:p.Gly1095Glu
XR_244571.2:n.3650G>A
XR_430568.2:n.3984G>A
XM_005262560.3:c.3227G>A XP_005262617.1:p.Gly1076Glu
XM_005262561.3:c.3131G>A XP_005262618.1:p.Gly1044Glu
XM_011531468.3:c.3284G>A XP_011529770.1:p.Gly1095Glu
XM_024452495.1:c.1352G>A XP_024308263.1:p.Gly451Glu
XM_024452496.1:c.1118G>A XP_024308264.1:p.Gly373Glu
XR_001756009.2:n.4100G>A
XR_001756010.2:n.4100G>A
XR_001756011.2:n.3965G>A
XR_001756012.2:n.4113G>A
XR_001756013.2:n.3431G>A
XR_002958832.1:n.3532G>A
XR_002958834.1:n.3756G>A
XR_002958835.1:n.3639G>A
XR_002958836.1:n.4322G>A
XR_002958837.1:n.4129G>A
XR_244571.4:n.3649G>A
XR_430568.4:n.3983G>A
NM_001146706.2:c.3191G>A NP_001140178.1:p.Gly1064Glu
NM_004653.5:c.3362G>A MANE Select NP_004644.2:p.Gly1121Glu
NM_001146705.2:c.3455G>A NP_001140177.1:p.Gly1152Glu