Canonical Allele Identifier: CA414843202
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3691T>A MANE Select ENSP00000322408.4:p.Cys1231Ser
ENST00000317961.8:c.3691T>A ENSP00000322408.4:p.Cys1231Ser
ENST00000382806.6:c.3520T>A ENSP00000372256.2:p.Cys1174Ser
ENST00000415360.1:c.607T>A ENSP00000389433.1:p.Cys203Ser
ENST00000440077.5:c.3568T>A ENSP00000398543.1:p.Cys1190Ser
ENST00000469599.6:n.2289T>A
ENST00000492117.1:n.3583T>A
ENST00000541639.5:c.3784T>A ENSP00000444293.1:p.Cys1262Ser
NM_001146705.1:c.3784T>A NP_001140177.1:p.Cys1262Ser
NM_001146706.1:c.3520T>A NP_001140178.1:p.Cys1174Ser
NM_004653.4:c.3691T>A NP_004644.2:p.Cys1231Ser
XM_005262560.1:c.3556T>A XP_005262617.1:p.Cys1186Ser
XM_005262561.1:c.3460T>A XP_005262618.1:p.Cys1154Ser
XM_011531468.1:c.3613T>A XP_011529770.1:p.Cys1205Ser
XR_244571.2:n.3979T>A
XR_430568.2:n.4313T>A
XM_005262560.3:c.3556T>A XP_005262617.1:p.Cys1186Ser
XM_005262561.3:c.3460T>A XP_005262618.1:p.Cys1154Ser
XM_011531468.3:c.3613T>A XP_011529770.1:p.Cys1205Ser
XM_024452495.1:c.1681T>A XP_024308263.1:p.Cys561Ser
XM_024452496.1:c.1447T>A XP_024308264.1:p.Cys483Ser
XR_001756009.2:n.4429T>A
XR_001756010.2:n.4429T>A
XR_001756011.2:n.4294T>A
XR_001756012.2:n.4442T>A
XR_001756013.2:n.3760T>A
XR_002958832.1:n.3861T>A
XR_002958834.1:n.4085T>A
XR_002958835.1:n.3968T>A
XR_002958836.1:n.4651T>A
XR_002958837.1:n.4458T>A
XR_244571.4:n.3978T>A
XR_430568.4:n.4312T>A
NM_001146706.2:c.3520T>A NP_001140178.1:p.Cys1174Ser
NM_004653.5:c.3691T>A MANE Select NP_004644.2:p.Cys1231Ser
NM_001146705.2:c.3784T>A NP_001140177.1:p.Cys1262Ser