Canonical Allele Identifier: CA414843819
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707623A>T , CM000686.2:g.19707623A>T GRCh38
NC_000024.9:g.21869509A>T , CM000686.1:g.21869509A>T GRCh37
NC_000024.8:g.20328897A>T NCBI36
NG_032920.1:g.42317T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3523T>A MANE Select ENSP00000322408.4:p.Cys1175Ser
ENST00000317961.8:c.3523T>A ENSP00000322408.4:p.Cys1175Ser
ENST00000382806.6:c.3352T>A ENSP00000372256.2:p.Cys1118Ser
ENST00000415360.1:c.439T>A ENSP00000389433.1:p.Cys147Ser
ENST00000440077.5:c.3400T>A ENSP00000398543.1:p.Cys1134Ser
ENST00000469599.6:n.2121T>A
ENST00000492117.1:n.3415T>A
ENST00000541639.5:c.3616T>A ENSP00000444293.1:p.Cys1206Ser
NM_001146705.1:c.3616T>A NP_001140177.1:p.Cys1206Ser
NM_001146706.1:c.3352T>A NP_001140178.1:p.Cys1118Ser
NM_004653.4:c.3523T>A NP_004644.2:p.Cys1175Ser
XM_005262560.1:c.3388T>A XP_005262617.1:p.Cys1130Ser
XM_005262561.1:c.3292T>A XP_005262618.1:p.Cys1098Ser
XM_011531468.1:c.3445T>A XP_011529770.1:p.Cys1149Ser
XR_244571.2:n.3811T>A
XR_430568.2:n.4145T>A
XM_005262560.3:c.3388T>A XP_005262617.1:p.Cys1130Ser
XM_005262561.3:c.3292T>A XP_005262618.1:p.Cys1098Ser
XM_011531468.3:c.3445T>A XP_011529770.1:p.Cys1149Ser
XM_024452495.1:c.1513T>A XP_024308263.1:p.Cys505Ser
XM_024452496.1:c.1279T>A XP_024308264.1:p.Cys427Ser
XR_001756009.2:n.4261T>A
XR_001756010.2:n.4261T>A
XR_001756011.2:n.4126T>A
XR_001756012.2:n.4274T>A
XR_001756013.2:n.3592T>A
XR_002958832.1:n.3693T>A
XR_002958834.1:n.3917T>A
XR_002958835.1:n.3800T>A
XR_002958836.1:n.4483T>A
XR_002958837.1:n.4290T>A
XR_244571.4:n.3810T>A
XR_430568.4:n.4144T>A
NM_001146706.2:c.3352T>A NP_001140178.1:p.Cys1118Ser
NM_004653.5:c.3523T>A MANE Select NP_004644.2:p.Cys1175Ser
NM_001146705.2:c.3616T>A NP_001140177.1:p.Cys1206Ser