Canonical Allele Identifier: CA414843539
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707553C>T , CM000686.2:g.19707553C>T GRCh38
NC_000024.9:g.21869439C>T , CM000686.1:g.21869439C>T GRCh37
NC_000024.8:g.20328827C>T NCBI36
NG_032920.1:g.42387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3593G>A MANE Select ENSP00000322408.4:p.Gly1198Glu
ENST00000317961.8:c.3593G>A ENSP00000322408.4:p.Gly1198Glu
ENST00000382806.6:c.3422G>A ENSP00000372256.2:p.Gly1141Glu
ENST00000415360.1:c.509G>A ENSP00000389433.1:p.Gly170Glu
ENST00000440077.5:c.3470G>A ENSP00000398543.1:p.Gly1157Glu
ENST00000469599.6:n.2191G>A
ENST00000492117.1:n.3485G>A
ENST00000541639.5:c.3686G>A ENSP00000444293.1:p.Gly1229Glu
NM_001146705.1:c.3686G>A NP_001140177.1:p.Gly1229Glu
NM_001146706.1:c.3422G>A NP_001140178.1:p.Gly1141Glu
NM_004653.4:c.3593G>A NP_004644.2:p.Gly1198Glu
XM_005262560.1:c.3458G>A XP_005262617.1:p.Gly1153Glu
XM_005262561.1:c.3362G>A XP_005262618.1:p.Gly1121Glu
XM_011531468.1:c.3515G>A XP_011529770.1:p.Gly1172Glu
XR_244571.2:n.3881G>A
XR_430568.2:n.4215G>A
XM_005262560.3:c.3458G>A XP_005262617.1:p.Gly1153Glu
XM_005262561.3:c.3362G>A XP_005262618.1:p.Gly1121Glu
XM_011531468.3:c.3515G>A XP_011529770.1:p.Gly1172Glu
XM_024452495.1:c.1583G>A XP_024308263.1:p.Gly528Glu
XM_024452496.1:c.1349G>A XP_024308264.1:p.Gly450Glu
XR_001756009.2:n.4331G>A
XR_001756010.2:n.4331G>A
XR_001756011.2:n.4196G>A
XR_001756012.2:n.4344G>A
XR_001756013.2:n.3662G>A
XR_002958832.1:n.3763G>A
XR_002958834.1:n.3987G>A
XR_002958835.1:n.3870G>A
XR_002958836.1:n.4553G>A
XR_002958837.1:n.4360G>A
XR_244571.4:n.3880G>A
XR_430568.4:n.4214G>A
NM_001146706.2:c.3422G>A NP_001140178.1:p.Gly1141Glu
NM_004653.5:c.3593G>A MANE Select NP_004644.2:p.Gly1198Glu
NM_001146705.2:c.3686G>A NP_001140177.1:p.Gly1229Glu