Canonical Allele Identifier: CA414843760
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707607A>T , CM000686.2:g.19707607A>T GRCh38
NC_000024.9:g.21869493A>T , CM000686.1:g.21869493A>T GRCh37
NC_000024.8:g.20328881A>T NCBI36
NG_032920.1:g.42333T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3539T>A MANE Select ENSP00000322408.4:p.Val1180Glu
ENST00000317961.8:c.3539T>A ENSP00000322408.4:p.Val1180Glu
ENST00000382806.6:c.3368T>A ENSP00000372256.2:p.Val1123Glu
ENST00000415360.1:c.455T>A ENSP00000389433.1:p.Val152Glu
ENST00000440077.5:c.3416T>A ENSP00000398543.1:p.Val1139Glu
ENST00000469599.6:n.2137T>A
ENST00000492117.1:n.3431T>A
ENST00000541639.5:c.3632T>A ENSP00000444293.1:p.Val1211Glu
NM_001146705.1:c.3632T>A NP_001140177.1:p.Val1211Glu
NM_001146706.1:c.3368T>A NP_001140178.1:p.Val1123Glu
NM_004653.4:c.3539T>A NP_004644.2:p.Val1180Glu
XM_005262560.1:c.3404T>A XP_005262617.1:p.Val1135Glu
XM_005262561.1:c.3308T>A XP_005262618.1:p.Val1103Glu
XM_011531468.1:c.3461T>A XP_011529770.1:p.Val1154Glu
XR_244571.2:n.3827T>A
XR_430568.2:n.4161T>A
XM_005262560.3:c.3404T>A XP_005262617.1:p.Val1135Glu
XM_005262561.3:c.3308T>A XP_005262618.1:p.Val1103Glu
XM_011531468.3:c.3461T>A XP_011529770.1:p.Val1154Glu
XM_024452495.1:c.1529T>A XP_024308263.1:p.Val510Glu
XM_024452496.1:c.1295T>A XP_024308264.1:p.Val432Glu
XR_001756009.2:n.4277T>A
XR_001756010.2:n.4277T>A
XR_001756011.2:n.4142T>A
XR_001756012.2:n.4290T>A
XR_001756013.2:n.3608T>A
XR_002958832.1:n.3709T>A
XR_002958834.1:n.3933T>A
XR_002958835.1:n.3816T>A
XR_002958836.1:n.4499T>A
XR_002958837.1:n.4306T>A
XR_244571.4:n.3826T>A
XR_430568.4:n.4160T>A
NM_001146706.2:c.3368T>A NP_001140178.1:p.Val1123Glu
NM_004653.5:c.3539T>A MANE Select NP_004644.2:p.Val1180Glu
NM_001146705.2:c.3632T>A NP_001140177.1:p.Val1211Glu