Canonical Allele Identifier: CA414843659
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707578C>T , CM000686.2:g.19707578C>T GRCh38
NC_000024.9:g.21869464C>T , CM000686.1:g.21869464C>T GRCh37
NC_000024.8:g.20328852C>T NCBI36
NG_032920.1:g.42362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3568G>A MANE Select ENSP00000322408.4:p.Asp1190Asn
ENST00000317961.8:c.3568G>A ENSP00000322408.4:p.Asp1190Asn
ENST00000382806.6:c.3397G>A ENSP00000372256.2:p.Asp1133Asn
ENST00000415360.1:c.484G>A ENSP00000389433.1:p.Asp162Asn
ENST00000440077.5:c.3445G>A ENSP00000398543.1:p.Asp1149Asn
ENST00000469599.6:n.2166G>A
ENST00000492117.1:n.3460G>A
ENST00000541639.5:c.3661G>A ENSP00000444293.1:p.Asp1221Asn
NM_001146705.1:c.3661G>A NP_001140177.1:p.Asp1221Asn
NM_001146706.1:c.3397G>A NP_001140178.1:p.Asp1133Asn
NM_004653.4:c.3568G>A NP_004644.2:p.Asp1190Asn
XM_005262560.1:c.3433G>A XP_005262617.1:p.Asp1145Asn
XM_005262561.1:c.3337G>A XP_005262618.1:p.Asp1113Asn
XM_011531468.1:c.3490G>A XP_011529770.1:p.Asp1164Asn
XR_244571.2:n.3856G>A
XR_430568.2:n.4190G>A
XM_005262560.3:c.3433G>A XP_005262617.1:p.Asp1145Asn
XM_005262561.3:c.3337G>A XP_005262618.1:p.Asp1113Asn
XM_011531468.3:c.3490G>A XP_011529770.1:p.Asp1164Asn
XM_024452495.1:c.1558G>A XP_024308263.1:p.Asp520Asn
XM_024452496.1:c.1324G>A XP_024308264.1:p.Asp442Asn
XR_001756009.2:n.4306G>A
XR_001756010.2:n.4306G>A
XR_001756011.2:n.4171G>A
XR_001756012.2:n.4319G>A
XR_001756013.2:n.3637G>A
XR_002958832.1:n.3738G>A
XR_002958834.1:n.3962G>A
XR_002958835.1:n.3845G>A
XR_002958836.1:n.4528G>A
XR_002958837.1:n.4335G>A
XR_244571.4:n.3855G>A
XR_430568.4:n.4189G>A
NM_001146706.2:c.3397G>A NP_001140178.1:p.Asp1133Asn
NM_004653.5:c.3568G>A MANE Select NP_004644.2:p.Asp1190Asn
NM_001146705.2:c.3661G>A NP_001140177.1:p.Asp1221Asn