Canonical Allele Identifier: CA414843799
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707617A>G , CM000686.2:g.19707617A>G GRCh38
NC_000024.9:g.21869503A>G , CM000686.1:g.21869503A>G GRCh37
NC_000024.8:g.20328891A>G NCBI36
NG_032920.1:g.42323T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3529T>C MANE Select ENSP00000322408.4:p.Cys1177Arg
ENST00000317961.8:c.3529T>C ENSP00000322408.4:p.Cys1177Arg
ENST00000382806.6:c.3358T>C ENSP00000372256.2:p.Cys1120Arg
ENST00000415360.1:c.445T>C ENSP00000389433.1:p.Cys149Arg
ENST00000440077.5:c.3406T>C ENSP00000398543.1:p.Cys1136Arg
ENST00000469599.6:n.2127T>C
ENST00000492117.1:n.3421T>C
ENST00000541639.5:c.3622T>C ENSP00000444293.1:p.Cys1208Arg
NM_001146705.1:c.3622T>C NP_001140177.1:p.Cys1208Arg
NM_001146706.1:c.3358T>C NP_001140178.1:p.Cys1120Arg
NM_004653.4:c.3529T>C NP_004644.2:p.Cys1177Arg
XM_005262560.1:c.3394T>C XP_005262617.1:p.Cys1132Arg
XM_005262561.1:c.3298T>C XP_005262618.1:p.Cys1100Arg
XM_011531468.1:c.3451T>C XP_011529770.1:p.Cys1151Arg
XR_244571.2:n.3817T>C
XR_430568.2:n.4151T>C
XM_005262560.3:c.3394T>C XP_005262617.1:p.Cys1132Arg
XM_005262561.3:c.3298T>C XP_005262618.1:p.Cys1100Arg
XM_011531468.3:c.3451T>C XP_011529770.1:p.Cys1151Arg
XM_024452495.1:c.1519T>C XP_024308263.1:p.Cys507Arg
XM_024452496.1:c.1285T>C XP_024308264.1:p.Cys429Arg
XR_001756009.2:n.4267T>C
XR_001756010.2:n.4267T>C
XR_001756011.2:n.4132T>C
XR_001756012.2:n.4280T>C
XR_001756013.2:n.3598T>C
XR_002958832.1:n.3699T>C
XR_002958834.1:n.3923T>C
XR_002958835.1:n.3806T>C
XR_002958836.1:n.4489T>C
XR_002958837.1:n.4296T>C
XR_244571.4:n.3816T>C
XR_430568.4:n.4150T>C
NM_001146706.2:c.3358T>C NP_001140178.1:p.Cys1120Arg
NM_004653.5:c.3529T>C MANE Select NP_004644.2:p.Cys1177Arg
NM_001146705.2:c.3622T>C NP_001140177.1:p.Cys1208Arg