Canonical Allele Identifier: CA414843780
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707611G>T , CM000686.2:g.19707611G>T GRCh38
NC_000024.9:g.21869497G>T , CM000686.1:g.21869497G>T GRCh37
NC_000024.8:g.20328885G>T NCBI36
NG_032920.1:g.42329C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3535C>A MANE Select ENSP00000322408.4:p.Gln1179Lys
ENST00000317961.8:c.3535C>A ENSP00000322408.4:p.Gln1179Lys
ENST00000382806.6:c.3364C>A ENSP00000372256.2:p.Gln1122Lys
ENST00000415360.1:c.451C>A ENSP00000389433.1:p.Gln151Lys
ENST00000440077.5:c.3412C>A ENSP00000398543.1:p.Gln1138Lys
ENST00000469599.6:n.2133C>A
ENST00000492117.1:n.3427C>A
ENST00000541639.5:c.3628C>A ENSP00000444293.1:p.Gln1210Lys
NM_001146705.1:c.3628C>A NP_001140177.1:p.Gln1210Lys
NM_001146706.1:c.3364C>A NP_001140178.1:p.Gln1122Lys
NM_004653.4:c.3535C>A NP_004644.2:p.Gln1179Lys
XM_005262560.1:c.3400C>A XP_005262617.1:p.Gln1134Lys
XM_005262561.1:c.3304C>A XP_005262618.1:p.Gln1102Lys
XM_011531468.1:c.3457C>A XP_011529770.1:p.Gln1153Lys
XR_244571.2:n.3823C>A
XR_430568.2:n.4157C>A
XM_005262560.3:c.3400C>A XP_005262617.1:p.Gln1134Lys
XM_005262561.3:c.3304C>A XP_005262618.1:p.Gln1102Lys
XM_011531468.3:c.3457C>A XP_011529770.1:p.Gln1153Lys
XM_024452495.1:c.1525C>A XP_024308263.1:p.Gln509Lys
XM_024452496.1:c.1291C>A XP_024308264.1:p.Gln431Lys
XR_001756009.2:n.4273C>A
XR_001756010.2:n.4273C>A
XR_001756011.2:n.4138C>A
XR_001756012.2:n.4286C>A
XR_001756013.2:n.3604C>A
XR_002958832.1:n.3705C>A
XR_002958834.1:n.3929C>A
XR_002958835.1:n.3812C>A
XR_002958836.1:n.4495C>A
XR_002958837.1:n.4302C>A
XR_244571.4:n.3822C>A
XR_430568.4:n.4156C>A
NM_001146706.2:c.3364C>A NP_001140178.1:p.Gln1122Lys
NM_004653.5:c.3535C>A MANE Select NP_004644.2:p.Gln1179Lys
NM_001146705.2:c.3628C>A NP_001140177.1:p.Gln1210Lys