Canonical Allele Identifier: CA414843301
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707482A>T , CM000686.2:g.19707482A>T GRCh38
NC_000024.9:g.21869368A>T , CM000686.1:g.21869368A>T GRCh37
NC_000024.8:g.20328756A>T NCBI36
NG_032920.1:g.42458T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3664T>A MANE Select ENSP00000322408.4:p.Trp1222Arg
ENST00000317961.8:c.3664T>A ENSP00000322408.4:p.Trp1222Arg
ENST00000382806.6:c.3493T>A ENSP00000372256.2:p.Trp1165Arg
ENST00000415360.1:c.580T>A ENSP00000389433.1:p.Trp194Arg
ENST00000440077.5:c.3541T>A ENSP00000398543.1:p.Trp1181Arg
ENST00000469599.6:n.2262T>A
ENST00000492117.1:n.3556T>A
ENST00000541639.5:c.3757T>A ENSP00000444293.1:p.Trp1253Arg
NM_001146705.1:c.3757T>A NP_001140177.1:p.Trp1253Arg
NM_001146706.1:c.3493T>A NP_001140178.1:p.Trp1165Arg
NM_004653.4:c.3664T>A NP_004644.2:p.Trp1222Arg
XM_005262560.1:c.3529T>A XP_005262617.1:p.Trp1177Arg
XM_005262561.1:c.3433T>A XP_005262618.1:p.Trp1145Arg
XM_011531468.1:c.3586T>A XP_011529770.1:p.Trp1196Arg
XR_244571.2:n.3952T>A
XR_430568.2:n.4286T>A
XM_005262560.3:c.3529T>A XP_005262617.1:p.Trp1177Arg
XM_005262561.3:c.3433T>A XP_005262618.1:p.Trp1145Arg
XM_011531468.3:c.3586T>A XP_011529770.1:p.Trp1196Arg
XM_024452495.1:c.1654T>A XP_024308263.1:p.Trp552Arg
XM_024452496.1:c.1420T>A XP_024308264.1:p.Trp474Arg
XR_001756009.2:n.4402T>A
XR_001756010.2:n.4402T>A
XR_001756011.2:n.4267T>A
XR_001756012.2:n.4415T>A
XR_001756013.2:n.3733T>A
XR_002958832.1:n.3834T>A
XR_002958834.1:n.4058T>A
XR_002958835.1:n.3941T>A
XR_002958836.1:n.4624T>A
XR_002958837.1:n.4431T>A
XR_244571.4:n.3951T>A
XR_430568.4:n.4285T>A
NM_001146706.2:c.3493T>A NP_001140178.1:p.Trp1165Arg
NM_004653.5:c.3664T>A MANE Select NP_004644.2:p.Trp1222Arg
NM_001146705.2:c.3757T>A NP_001140177.1:p.Trp1253Arg