Canonical Allele Identifier: CA414844286
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707949T>G , CM000686.2:g.19707949T>G GRCh38
NC_000024.9:g.21869835T>G , CM000686.1:g.21869835T>G GRCh37
NC_000024.8:g.20329223T>G NCBI36
NG_032920.1:g.41991A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3384A>C MANE Select ENSP00000322408.4:p.Arg1128Ser
ENST00000317961.8:c.3384A>C ENSP00000322408.4:p.Arg1128Ser
ENST00000382806.6:c.3213A>C ENSP00000372256.2:p.Arg1071Ser
ENST00000415360.1:c.300A>C ENSP00000389433.1:p.Arg100Ser
ENST00000440077.5:c.3261A>C ENSP00000398543.1:p.Arg1087Ser
ENST00000469599.6:n.1982A>C
ENST00000492117.1:n.3276A>C
ENST00000541639.5:c.3477A>C ENSP00000444293.1:p.Arg1159Ser
NM_001146705.1:c.3477A>C NP_001140177.1:p.Arg1159Ser
NM_001146706.1:c.3213A>C NP_001140178.1:p.Arg1071Ser
NM_004653.4:c.3384A>C NP_004644.2:p.Arg1128Ser
XM_005262560.1:c.3249A>C XP_005262617.1:p.Arg1083Ser
XM_005262561.1:c.3153A>C XP_005262618.1:p.Arg1051Ser
XM_011531468.1:c.3306A>C XP_011529770.1:p.Arg1102Ser
XR_244571.2:n.3672A>C
XR_430568.2:n.4006A>C
XM_005262560.3:c.3249A>C XP_005262617.1:p.Arg1083Ser
XM_005262561.3:c.3153A>C XP_005262618.1:p.Arg1051Ser
XM_011531468.3:c.3306A>C XP_011529770.1:p.Arg1102Ser
XM_024452495.1:c.1374A>C XP_024308263.1:p.Arg458Ser
XM_024452496.1:c.1140A>C XP_024308264.1:p.Arg380Ser
XR_001756009.2:n.4122A>C
XR_001756010.2:n.4122A>C
XR_001756011.2:n.3987A>C
XR_001756012.2:n.4135A>C
XR_001756013.2:n.3453A>C
XR_002958832.1:n.3554A>C
XR_002958834.1:n.3778A>C
XR_002958835.1:n.3661A>C
XR_002958836.1:n.4344A>C
XR_002958837.1:n.4151A>C
XR_244571.4:n.3671A>C
XR_430568.4:n.4005A>C
NM_001146706.2:c.3213A>C NP_001140178.1:p.Arg1071Ser
NM_004653.5:c.3384A>C MANE Select NP_004644.2:p.Arg1128Ser
NM_001146705.2:c.3477A>C NP_001140177.1:p.Arg1159Ser