Canonical Allele Identifier: CA414844328
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707962G>T , CM000686.2:g.19707962G>T GRCh38
NC_000024.9:g.21869848G>T , CM000686.1:g.21869848G>T GRCh37
NC_000024.8:g.20329236G>T NCBI36
NG_032920.1:g.41978C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3371C>A MANE Select ENSP00000322408.4:p.Ala1124Glu
ENST00000317961.8:c.3371C>A ENSP00000322408.4:p.Ala1124Glu
ENST00000382806.6:c.3200C>A ENSP00000372256.2:p.Ala1067Glu
ENST00000415360.1:c.287C>A ENSP00000389433.1:p.Ala96Glu
ENST00000440077.5:c.3248C>A ENSP00000398543.1:p.Ala1083Glu
ENST00000469599.6:n.1969C>A
ENST00000492117.1:n.3263C>A
ENST00000541639.5:c.3464C>A ENSP00000444293.1:p.Ala1155Glu
NM_001146705.1:c.3464C>A NP_001140177.1:p.Ala1155Glu
NM_001146706.1:c.3200C>A NP_001140178.1:p.Ala1067Glu
NM_004653.4:c.3371C>A NP_004644.2:p.Ala1124Glu
XM_005262560.1:c.3236C>A XP_005262617.1:p.Ala1079Glu
XM_005262561.1:c.3140C>A XP_005262618.1:p.Ala1047Glu
XM_011531468.1:c.3293C>A XP_011529770.1:p.Ala1098Glu
XR_244571.2:n.3659C>A
XR_430568.2:n.3993C>A
XM_005262560.3:c.3236C>A XP_005262617.1:p.Ala1079Glu
XM_005262561.3:c.3140C>A XP_005262618.1:p.Ala1047Glu
XM_011531468.3:c.3293C>A XP_011529770.1:p.Ala1098Glu
XM_024452495.1:c.1361C>A XP_024308263.1:p.Ala454Glu
XM_024452496.1:c.1127C>A XP_024308264.1:p.Ala376Glu
XR_001756009.2:n.4109C>A
XR_001756010.2:n.4109C>A
XR_001756011.2:n.3974C>A
XR_001756012.2:n.4122C>A
XR_001756013.2:n.3440C>A
XR_002958832.1:n.3541C>A
XR_002958834.1:n.3765C>A
XR_002958835.1:n.3648C>A
XR_002958836.1:n.4331C>A
XR_002958837.1:n.4138C>A
XR_244571.4:n.3658C>A
XR_430568.4:n.3992C>A
NM_001146706.2:c.3200C>A NP_001140178.1:p.Ala1067Glu
NM_004653.5:c.3371C>A MANE Select NP_004644.2:p.Ala1124Glu
NM_001146705.2:c.3464C>A NP_001140177.1:p.Ala1155Glu