Canonical Allele Identifier: CA414843433
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707523G>T , CM000686.2:g.19707523G>T GRCh38
NC_000024.9:g.21869409G>T , CM000686.1:g.21869409G>T GRCh37
NC_000024.8:g.20328797G>T NCBI36
NG_032920.1:g.42417C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3623C>A MANE Select ENSP00000322408.4:p.Thr1208Asn
ENST00000317961.8:c.3623C>A ENSP00000322408.4:p.Thr1208Asn
ENST00000382806.6:c.3452C>A ENSP00000372256.2:p.Thr1151Asn
ENST00000415360.1:c.539C>A ENSP00000389433.1:p.Thr180Asn
ENST00000440077.5:c.3500C>A ENSP00000398543.1:p.Thr1167Asn
ENST00000469599.6:n.2221C>A
ENST00000492117.1:n.3515C>A
ENST00000541639.5:c.3716C>A ENSP00000444293.1:p.Thr1239Asn
NM_001146705.1:c.3716C>A NP_001140177.1:p.Thr1239Asn
NM_001146706.1:c.3452C>A NP_001140178.1:p.Thr1151Asn
NM_004653.4:c.3623C>A NP_004644.2:p.Thr1208Asn
XM_005262560.1:c.3488C>A XP_005262617.1:p.Thr1163Asn
XM_005262561.1:c.3392C>A XP_005262618.1:p.Thr1131Asn
XM_011531468.1:c.3545C>A XP_011529770.1:p.Thr1182Asn
XR_244571.2:n.3911C>A
XR_430568.2:n.4245C>A
XM_005262560.3:c.3488C>A XP_005262617.1:p.Thr1163Asn
XM_005262561.3:c.3392C>A XP_005262618.1:p.Thr1131Asn
XM_011531468.3:c.3545C>A XP_011529770.1:p.Thr1182Asn
XM_024452495.1:c.1613C>A XP_024308263.1:p.Thr538Asn
XM_024452496.1:c.1379C>A XP_024308264.1:p.Thr460Asn
XR_001756009.2:n.4361C>A
XR_001756010.2:n.4361C>A
XR_001756011.2:n.4226C>A
XR_001756012.2:n.4374C>A
XR_001756013.2:n.3692C>A
XR_002958832.1:n.3793C>A
XR_002958834.1:n.4017C>A
XR_002958835.1:n.3900C>A
XR_002958836.1:n.4583C>A
XR_002958837.1:n.4390C>A
XR_244571.4:n.3910C>A
XR_430568.4:n.4244C>A
NM_001146706.2:c.3452C>A NP_001140178.1:p.Thr1151Asn
NM_004653.5:c.3623C>A MANE Select NP_004644.2:p.Thr1208Asn
NM_001146705.2:c.3716C>A NP_001140177.1:p.Thr1239Asn