Canonical Allele Identifier: CA414844627
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708034G>T , CM000686.2:g.19708034G>T GRCh38
NC_000024.9:g.21869920G>T , CM000686.1:g.21869920G>T GRCh37
NC_000024.8:g.20329308G>T NCBI36
NG_032920.1:g.41906C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3299C>A MANE Select ENSP00000322408.4:p.Thr1100Asn
ENST00000317961.8:c.3299C>A ENSP00000322408.4:p.Thr1100Asn
ENST00000382806.6:c.3128C>A ENSP00000372256.2:p.Thr1043Asn
ENST00000415360.1:c.215C>A ENSP00000389433.1:p.Thr72Asn
ENST00000440077.5:c.3176C>A ENSP00000398543.1:p.Thr1059Asn
ENST00000469599.6:n.1897C>A
ENST00000492117.1:n.3191C>A
ENST00000541639.5:c.3392C>A ENSP00000444293.1:p.Thr1131Asn
NM_001146705.1:c.3392C>A NP_001140177.1:p.Thr1131Asn
NM_001146706.1:c.3128C>A NP_001140178.1:p.Thr1043Asn
NM_004653.4:c.3299C>A NP_004644.2:p.Thr1100Asn
XM_005262560.1:c.3164C>A XP_005262617.1:p.Thr1055Asn
XM_005262561.1:c.3068C>A XP_005262618.1:p.Thr1023Asn
XM_011531468.1:c.3221C>A XP_011529770.1:p.Thr1074Asn
XR_244571.2:n.3587C>A
XR_430568.2:n.3921C>A
XM_005262560.3:c.3164C>A XP_005262617.1:p.Thr1055Asn
XM_005262561.3:c.3068C>A XP_005262618.1:p.Thr1023Asn
XM_011531468.3:c.3221C>A XP_011529770.1:p.Thr1074Asn
XM_024452495.1:c.1289C>A XP_024308263.1:p.Thr430Asn
XM_024452496.1:c.1055C>A XP_024308264.1:p.Thr352Asn
XR_001756009.2:n.4037C>A
XR_001756010.2:n.4037C>A
XR_001756011.2:n.3902C>A
XR_001756012.2:n.4050C>A
XR_001756013.2:n.3368C>A
XR_002958832.1:n.3469C>A
XR_002958834.1:n.3693C>A
XR_002958835.1:n.3576C>A
XR_002958836.1:n.4259C>A
XR_002958837.1:n.4066C>A
XR_244571.4:n.3586C>A
XR_430568.4:n.3920C>A
NM_001146706.2:c.3128C>A NP_001140178.1:p.Thr1043Asn
NM_004653.5:c.3299C>A MANE Select NP_004644.2:p.Thr1100Asn
NM_001146705.2:c.3392C>A NP_001140177.1:p.Thr1131Asn