Canonical Allele Identifier: CA414841528
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19732612A>T , CM000686.2:g.19732612A>T GRCh38
NC_000024.9:g.21894498A>T , CM000686.1:g.21894498A>T GRCh37
NC_000024.8:g.20353886A>T NCBI36
NG_032920.1:g.17328T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.1064T>A MANE Select ENSP00000322408.4:p.Ile355Asn
ENST00000317961.8:c.1064T>A ENSP00000322408.4:p.Ile355Asn
ENST00000382806.6:c.893T>A ENSP00000372256.2:p.Ile298Asn
ENST00000440077.5:c.941T>A ENSP00000398543.1:p.Ile314Asn
ENST00000447300.1:c.929T>A ENSP00000416377.1:p.Ile310Asn
ENST00000541639.5:c.1064T>A ENSP00000444293.1:p.Ile355Asn
NM_001146705.1:c.1064T>A NP_001140177.1:p.Ile355Asn
NM_001146706.1:c.893T>A NP_001140178.1:p.Ile298Asn
NM_004653.4:c.1064T>A NP_004644.2:p.Ile355Asn
XM_005262560.1:c.929T>A XP_005262617.1:p.Ile310Asn
XM_005262561.1:c.1064T>A XP_005262618.1:p.Ile355Asn
XM_005262562.2:c.1064T>A XP_005262619.1:p.Ile355Asn
XM_011531468.1:c.1064T>A XP_011529770.1:p.Ile355Asn
XR_244571.2:n.1352T>A
XR_430568.2:n.1352T>A
XR_938609.1:n.1352T>A
XR_938610.1:n.1352T>A
XM_005262560.3:c.929T>A XP_005262617.1:p.Ile310Asn
XM_005262561.3:c.1064T>A XP_005262618.1:p.Ile355Asn
XM_011531468.3:c.1064T>A XP_011529770.1:p.Ile355Asn
XM_024452495.1:c.-1054T>A XP_024308263.1:n.-1054T>A
XR_001756009.2:n.1351T>A
XR_001756010.2:n.1351T>A
XR_001756011.2:n.1216T>A
XR_001756012.2:n.1351T>A
XR_001756013.2:n.1351T>A
XR_002958832.1:n.1351T>A
XR_002958833.1:n.1351T>A
XR_002958834.1:n.1351T>A
XR_002958835.1:n.1351T>A
XR_002958836.1:n.1351T>A
XR_002958837.1:n.1351T>A
XR_244571.4:n.1351T>A
XR_430568.4:n.1351T>A
NM_001146706.2:c.893T>A NP_001140178.1:p.Ile298Asn
NM_004653.5:c.1064T>A MANE Select NP_004644.2:p.Ile355Asn
NM_001146705.2:c.1064T>A NP_001140177.1:p.Ile355Asn