Canonical Allele Identifier: CA414843198
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707455A>C , CM000686.2:g.19707455A>C GRCh38
NC_000024.9:g.21869341A>C , CM000686.1:g.21869341A>C GRCh37
NC_000024.8:g.20328729A>C NCBI36
NG_032920.1:g.42485T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3691T>G MANE Select ENSP00000322408.4:p.Cys1231Gly
ENST00000317961.8:c.3691T>G ENSP00000322408.4:p.Cys1231Gly
ENST00000382806.6:c.3520T>G ENSP00000372256.2:p.Cys1174Gly
ENST00000415360.1:c.607T>G ENSP00000389433.1:p.Cys203Gly
ENST00000440077.5:c.3568T>G ENSP00000398543.1:p.Cys1190Gly
ENST00000469599.6:n.2289T>G
ENST00000492117.1:n.3583T>G
ENST00000541639.5:c.3784T>G ENSP00000444293.1:p.Cys1262Gly
NM_001146705.1:c.3784T>G NP_001140177.1:p.Cys1262Gly
NM_001146706.1:c.3520T>G NP_001140178.1:p.Cys1174Gly
NM_004653.4:c.3691T>G NP_004644.2:p.Cys1231Gly
XM_005262560.1:c.3556T>G XP_005262617.1:p.Cys1186Gly
XM_005262561.1:c.3460T>G XP_005262618.1:p.Cys1154Gly
XM_011531468.1:c.3613T>G XP_011529770.1:p.Cys1205Gly
XR_244571.2:n.3979T>G
XR_430568.2:n.4313T>G
XM_005262560.3:c.3556T>G XP_005262617.1:p.Cys1186Gly
XM_005262561.3:c.3460T>G XP_005262618.1:p.Cys1154Gly
XM_011531468.3:c.3613T>G XP_011529770.1:p.Cys1205Gly
XM_024452495.1:c.1681T>G XP_024308263.1:p.Cys561Gly
XM_024452496.1:c.1447T>G XP_024308264.1:p.Cys483Gly
XR_001756009.2:n.4429T>G
XR_001756010.2:n.4429T>G
XR_001756011.2:n.4294T>G
XR_001756012.2:n.4442T>G
XR_001756013.2:n.3760T>G
XR_002958832.1:n.3861T>G
XR_002958834.1:n.4085T>G
XR_002958835.1:n.3968T>G
XR_002958836.1:n.4651T>G
XR_002958837.1:n.4458T>G
XR_244571.4:n.3978T>G
XR_430568.4:n.4312T>G
NM_001146706.2:c.3520T>G NP_001140178.1:p.Cys1174Gly
NM_004653.5:c.3691T>G MANE Select NP_004644.2:p.Cys1231Gly
NM_001146705.2:c.3784T>G NP_001140177.1:p.Cys1262Gly