Canonical Allele Identifier: CA414843710
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707592C>T , CM000686.2:g.19707592C>T GRCh38
NC_000024.9:g.21869478C>T , CM000686.1:g.21869478C>T GRCh37
NC_000024.8:g.20328866C>T NCBI36
NG_032920.1:g.42348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3554G>A MANE Select ENSP00000322408.4:p.Gly1185Glu
ENST00000317961.8:c.3554G>A ENSP00000322408.4:p.Gly1185Glu
ENST00000382806.6:c.3383G>A ENSP00000372256.2:p.Gly1128Glu
ENST00000415360.1:c.470G>A ENSP00000389433.1:p.Gly157Glu
ENST00000440077.5:c.3431G>A ENSP00000398543.1:p.Gly1144Glu
ENST00000469599.6:n.2152G>A
ENST00000492117.1:n.3446G>A
ENST00000541639.5:c.3647G>A ENSP00000444293.1:p.Gly1216Glu
NM_001146705.1:c.3647G>A NP_001140177.1:p.Gly1216Glu
NM_001146706.1:c.3383G>A NP_001140178.1:p.Gly1128Glu
NM_004653.4:c.3554G>A NP_004644.2:p.Gly1185Glu
XM_005262560.1:c.3419G>A XP_005262617.1:p.Gly1140Glu
XM_005262561.1:c.3323G>A XP_005262618.1:p.Gly1108Glu
XM_011531468.1:c.3476G>A XP_011529770.1:p.Gly1159Glu
XR_244571.2:n.3842G>A
XR_430568.2:n.4176G>A
XM_005262560.3:c.3419G>A XP_005262617.1:p.Gly1140Glu
XM_005262561.3:c.3323G>A XP_005262618.1:p.Gly1108Glu
XM_011531468.3:c.3476G>A XP_011529770.1:p.Gly1159Glu
XM_024452495.1:c.1544G>A XP_024308263.1:p.Gly515Glu
XM_024452496.1:c.1310G>A XP_024308264.1:p.Gly437Glu
XR_001756009.2:n.4292G>A
XR_001756010.2:n.4292G>A
XR_001756011.2:n.4157G>A
XR_001756012.2:n.4305G>A
XR_001756013.2:n.3623G>A
XR_002958832.1:n.3724G>A
XR_002958834.1:n.3948G>A
XR_002958835.1:n.3831G>A
XR_002958836.1:n.4514G>A
XR_002958837.1:n.4321G>A
XR_244571.4:n.3841G>A
XR_430568.4:n.4175G>A
NM_001146706.2:c.3383G>A NP_001140178.1:p.Gly1128Glu
NM_004653.5:c.3554G>A MANE Select NP_004644.2:p.Gly1185Glu
NM_001146705.2:c.3647G>A NP_001140177.1:p.Gly1216Glu