Canonical Allele Identifier: CA414843356
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707502G>T , CM000686.2:g.19707502G>T GRCh38
NC_000024.9:g.21869388G>T , CM000686.1:g.21869388G>T GRCh37
NC_000024.8:g.20328776G>T NCBI36
NG_032920.1:g.42438C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3644C>A MANE Select ENSP00000322408.4:p.Thr1215Asn
ENST00000317961.8:c.3644C>A ENSP00000322408.4:p.Thr1215Asn
ENST00000382806.6:c.3473C>A ENSP00000372256.2:p.Thr1158Asn
ENST00000415360.1:c.560C>A ENSP00000389433.1:p.Thr187Asn
ENST00000440077.5:c.3521C>A ENSP00000398543.1:p.Thr1174Asn
ENST00000469599.6:n.2242C>A
ENST00000492117.1:n.3536C>A
ENST00000541639.5:c.3737C>A ENSP00000444293.1:p.Thr1246Asn
NM_001146705.1:c.3737C>A NP_001140177.1:p.Thr1246Asn
NM_001146706.1:c.3473C>A NP_001140178.1:p.Thr1158Asn
NM_004653.4:c.3644C>A NP_004644.2:p.Thr1215Asn
XM_005262560.1:c.3509C>A XP_005262617.1:p.Thr1170Asn
XM_005262561.1:c.3413C>A XP_005262618.1:p.Thr1138Asn
XM_011531468.1:c.3566C>A XP_011529770.1:p.Thr1189Asn
XR_244571.2:n.3932C>A
XR_430568.2:n.4266C>A
XM_005262560.3:c.3509C>A XP_005262617.1:p.Thr1170Asn
XM_005262561.3:c.3413C>A XP_005262618.1:p.Thr1138Asn
XM_011531468.3:c.3566C>A XP_011529770.1:p.Thr1189Asn
XM_024452495.1:c.1634C>A XP_024308263.1:p.Thr545Asn
XM_024452496.1:c.1400C>A XP_024308264.1:p.Thr467Asn
XR_001756009.2:n.4382C>A
XR_001756010.2:n.4382C>A
XR_001756011.2:n.4247C>A
XR_001756012.2:n.4395C>A
XR_001756013.2:n.3713C>A
XR_002958832.1:n.3814C>A
XR_002958834.1:n.4038C>A
XR_002958835.1:n.3921C>A
XR_002958836.1:n.4604C>A
XR_002958837.1:n.4411C>A
XR_244571.4:n.3931C>A
XR_430568.4:n.4265C>A
NM_001146706.2:c.3473C>A NP_001140178.1:p.Thr1158Asn
NM_004653.5:c.3644C>A MANE Select NP_004644.2:p.Thr1215Asn
NM_001146705.2:c.3737C>A NP_001140177.1:p.Thr1246Asn