Canonical Allele Identifier: CA414843631
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707572A>T , CM000686.2:g.19707572A>T GRCh38
NC_000024.9:g.21869458A>T , CM000686.1:g.21869458A>T GRCh37
NC_000024.8:g.20328846A>T NCBI36
NG_032920.1:g.42368T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3574T>A MANE Select ENSP00000322408.4:p.Cys1192Ser
ENST00000317961.8:c.3574T>A ENSP00000322408.4:p.Cys1192Ser
ENST00000382806.6:c.3403T>A ENSP00000372256.2:p.Cys1135Ser
ENST00000415360.1:c.490T>A ENSP00000389433.1:p.Cys164Ser
ENST00000440077.5:c.3451T>A ENSP00000398543.1:p.Cys1151Ser
ENST00000469599.6:n.2172T>A
ENST00000492117.1:n.3466T>A
ENST00000541639.5:c.3667T>A ENSP00000444293.1:p.Cys1223Ser
NM_001146705.1:c.3667T>A NP_001140177.1:p.Cys1223Ser
NM_001146706.1:c.3403T>A NP_001140178.1:p.Cys1135Ser
NM_004653.4:c.3574T>A NP_004644.2:p.Cys1192Ser
XM_005262560.1:c.3439T>A XP_005262617.1:p.Cys1147Ser
XM_005262561.1:c.3343T>A XP_005262618.1:p.Cys1115Ser
XM_011531468.1:c.3496T>A XP_011529770.1:p.Cys1166Ser
XR_244571.2:n.3862T>A
XR_430568.2:n.4196T>A
XM_005262560.3:c.3439T>A XP_005262617.1:p.Cys1147Ser
XM_005262561.3:c.3343T>A XP_005262618.1:p.Cys1115Ser
XM_011531468.3:c.3496T>A XP_011529770.1:p.Cys1166Ser
XM_024452495.1:c.1564T>A XP_024308263.1:p.Cys522Ser
XM_024452496.1:c.1330T>A XP_024308264.1:p.Cys444Ser
XR_001756009.2:n.4312T>A
XR_001756010.2:n.4312T>A
XR_001756011.2:n.4177T>A
XR_001756012.2:n.4325T>A
XR_001756013.2:n.3643T>A
XR_002958832.1:n.3744T>A
XR_002958834.1:n.3968T>A
XR_002958835.1:n.3851T>A
XR_002958836.1:n.4534T>A
XR_002958837.1:n.4341T>A
XR_244571.4:n.3861T>A
XR_430568.4:n.4195T>A
NM_001146706.2:c.3403T>A NP_001140178.1:p.Cys1135Ser
NM_004653.5:c.3574T>A MANE Select NP_004644.2:p.Cys1192Ser
NM_001146705.2:c.3667T>A NP_001140177.1:p.Cys1223Ser