Canonical Allele Identifier: CA414843867
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707637G>T , CM000686.2:g.19707637G>T GRCh38
NC_000024.9:g.21869523G>T , CM000686.1:g.21869523G>T GRCh37
NC_000024.8:g.20328911G>T NCBI36
NG_032920.1:g.42303C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3509C>A MANE Select ENSP00000322408.4:p.Ser1170Tyr
ENST00000317961.8:c.3509C>A ENSP00000322408.4:p.Ser1170Tyr
ENST00000382806.6:c.3338C>A ENSP00000372256.2:p.Ser1113Tyr
ENST00000415360.1:c.425C>A ENSP00000389433.1:p.Ser142Tyr
ENST00000440077.5:c.3386C>A ENSP00000398543.1:p.Ser1129Tyr
ENST00000469599.6:n.2107C>A
ENST00000492117.1:n.3401C>A
ENST00000541639.5:c.3602C>A ENSP00000444293.1:p.Ser1201Tyr
NM_001146705.1:c.3602C>A NP_001140177.1:p.Ser1201Tyr
NM_001146706.1:c.3338C>A NP_001140178.1:p.Ser1113Tyr
NM_004653.4:c.3509C>A NP_004644.2:p.Ser1170Tyr
XM_005262560.1:c.3374C>A XP_005262617.1:p.Ser1125Tyr
XM_005262561.1:c.3278C>A XP_005262618.1:p.Ser1093Tyr
XM_011531468.1:c.3431C>A XP_011529770.1:p.Ser1144Tyr
XR_244571.2:n.3797C>A
XR_430568.2:n.4131C>A
XM_005262560.3:c.3374C>A XP_005262617.1:p.Ser1125Tyr
XM_005262561.3:c.3278C>A XP_005262618.1:p.Ser1093Tyr
XM_011531468.3:c.3431C>A XP_011529770.1:p.Ser1144Tyr
XM_024452495.1:c.1499C>A XP_024308263.1:p.Ser500Tyr
XM_024452496.1:c.1265C>A XP_024308264.1:p.Ser422Tyr
XR_001756009.2:n.4247C>A
XR_001756010.2:n.4247C>A
XR_001756011.2:n.4112C>A
XR_001756012.2:n.4260C>A
XR_001756013.2:n.3578C>A
XR_002958832.1:n.3679C>A
XR_002958834.1:n.3903C>A
XR_002958835.1:n.3786C>A
XR_002958836.1:n.4469C>A
XR_002958837.1:n.4276C>A
XR_244571.4:n.3796C>A
XR_430568.4:n.4130C>A
NM_001146706.2:c.3338C>A NP_001140178.1:p.Ser1113Tyr
NM_004653.5:c.3509C>A MANE Select NP_004644.2:p.Ser1170Tyr
NM_001146705.2:c.3602C>A NP_001140177.1:p.Ser1201Tyr