Canonical Allele Identifier: CA414844571
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708024G>T , CM000686.2:g.19708024G>T GRCh38
NC_000024.9:g.21869910G>T , CM000686.1:g.21869910G>T GRCh37
NC_000024.8:g.20329298G>T NCBI36
NG_032920.1:g.41916C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3309C>A MANE Select ENSP00000322408.4:p.Ser1103Arg
ENST00000317961.8:c.3309C>A ENSP00000322408.4:p.Ser1103Arg
ENST00000382806.6:c.3138C>A ENSP00000372256.2:p.Ser1046Arg
ENST00000415360.1:c.225C>A ENSP00000389433.1:p.Ser75Arg
ENST00000440077.5:c.3186C>A ENSP00000398543.1:p.Ser1062Arg
ENST00000469599.6:n.1907C>A
ENST00000492117.1:n.3201C>A
ENST00000541639.5:c.3402C>A ENSP00000444293.1:p.Ser1134Arg
NM_001146705.1:c.3402C>A NP_001140177.1:p.Ser1134Arg
NM_001146706.1:c.3138C>A NP_001140178.1:p.Ser1046Arg
NM_004653.4:c.3309C>A NP_004644.2:p.Ser1103Arg
XM_005262560.1:c.3174C>A XP_005262617.1:p.Ser1058Arg
XM_005262561.1:c.3078C>A XP_005262618.1:p.Ser1026Arg
XM_011531468.1:c.3231C>A XP_011529770.1:p.Ser1077Arg
XR_244571.2:n.3597C>A
XR_430568.2:n.3931C>A
XM_005262560.3:c.3174C>A XP_005262617.1:p.Ser1058Arg
XM_005262561.3:c.3078C>A XP_005262618.1:p.Ser1026Arg
XM_011531468.3:c.3231C>A XP_011529770.1:p.Ser1077Arg
XM_024452495.1:c.1299C>A XP_024308263.1:p.Ser433Arg
XM_024452496.1:c.1065C>A XP_024308264.1:p.Ser355Arg
XR_001756009.2:n.4047C>A
XR_001756010.2:n.4047C>A
XR_001756011.2:n.3912C>A
XR_001756012.2:n.4060C>A
XR_001756013.2:n.3378C>A
XR_002958832.1:n.3479C>A
XR_002958834.1:n.3703C>A
XR_002958835.1:n.3586C>A
XR_002958836.1:n.4269C>A
XR_002958837.1:n.4076C>A
XR_244571.4:n.3596C>A
XR_430568.4:n.3930C>A
NM_001146706.2:c.3138C>A NP_001140178.1:p.Ser1046Arg
NM_004653.5:c.3309C>A MANE Select NP_004644.2:p.Ser1103Arg
NM_001146705.2:c.3402C>A NP_001140177.1:p.Ser1134Arg