Canonical Allele Identifier: CA414844557
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708020A>G , CM000686.2:g.19708020A>G GRCh38
NC_000024.9:g.21869906A>G , CM000686.1:g.21869906A>G GRCh37
NC_000024.8:g.20329294A>G NCBI36
NG_032920.1:g.41920T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3313T>C MANE Select ENSP00000322408.4:p.Trp1105Arg
ENST00000317961.8:c.3313T>C ENSP00000322408.4:p.Trp1105Arg
ENST00000382806.6:c.3142T>C ENSP00000372256.2:p.Trp1048Arg
ENST00000415360.1:c.229T>C ENSP00000389433.1:p.Trp77Arg
ENST00000440077.5:c.3190T>C ENSP00000398543.1:p.Trp1064Arg
ENST00000469599.6:n.1911T>C
ENST00000492117.1:n.3205T>C
ENST00000541639.5:c.3406T>C ENSP00000444293.1:p.Trp1136Arg
NM_001146705.1:c.3406T>C NP_001140177.1:p.Trp1136Arg
NM_001146706.1:c.3142T>C NP_001140178.1:p.Trp1048Arg
NM_004653.4:c.3313T>C NP_004644.2:p.Trp1105Arg
XM_005262560.1:c.3178T>C XP_005262617.1:p.Trp1060Arg
XM_005262561.1:c.3082T>C XP_005262618.1:p.Trp1028Arg
XM_011531468.1:c.3235T>C XP_011529770.1:p.Trp1079Arg
XR_244571.2:n.3601T>C
XR_430568.2:n.3935T>C
XM_005262560.3:c.3178T>C XP_005262617.1:p.Trp1060Arg
XM_005262561.3:c.3082T>C XP_005262618.1:p.Trp1028Arg
XM_011531468.3:c.3235T>C XP_011529770.1:p.Trp1079Arg
XM_024452495.1:c.1303T>C XP_024308263.1:p.Trp435Arg
XM_024452496.1:c.1069T>C XP_024308264.1:p.Trp357Arg
XR_001756009.2:n.4051T>C
XR_001756010.2:n.4051T>C
XR_001756011.2:n.3916T>C
XR_001756012.2:n.4064T>C
XR_001756013.2:n.3382T>C
XR_002958832.1:n.3483T>C
XR_002958834.1:n.3707T>C
XR_002958835.1:n.3590T>C
XR_002958836.1:n.4273T>C
XR_002958837.1:n.4080T>C
XR_244571.4:n.3600T>C
XR_430568.4:n.3934T>C
NM_001146706.2:c.3142T>C NP_001140178.1:p.Trp1048Arg
NM_004653.5:c.3313T>C MANE Select NP_004644.2:p.Trp1105Arg
NM_001146705.2:c.3406T>C NP_001140177.1:p.Trp1136Arg