Canonical Allele Identifier: CA414843600
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707566C>T , CM000686.2:g.19707566C>T GRCh38
NC_000024.9:g.21869452C>T , CM000686.1:g.21869452C>T GRCh37
NC_000024.8:g.20328840C>T NCBI36
NG_032920.1:g.42374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3580G>A MANE Select ENSP00000322408.4:p.Asp1194Asn
ENST00000317961.8:c.3580G>A ENSP00000322408.4:p.Asp1194Asn
ENST00000382806.6:c.3409G>A ENSP00000372256.2:p.Asp1137Asn
ENST00000415360.1:c.496G>A ENSP00000389433.1:p.Asp166Asn
ENST00000440077.5:c.3457G>A ENSP00000398543.1:p.Asp1153Asn
ENST00000469599.6:n.2178G>A
ENST00000492117.1:n.3472G>A
ENST00000541639.5:c.3673G>A ENSP00000444293.1:p.Asp1225Asn
NM_001146705.1:c.3673G>A NP_001140177.1:p.Asp1225Asn
NM_001146706.1:c.3409G>A NP_001140178.1:p.Asp1137Asn
NM_004653.4:c.3580G>A NP_004644.2:p.Asp1194Asn
XM_005262560.1:c.3445G>A XP_005262617.1:p.Asp1149Asn
XM_005262561.1:c.3349G>A XP_005262618.1:p.Asp1117Asn
XM_011531468.1:c.3502G>A XP_011529770.1:p.Asp1168Asn
XR_244571.2:n.3868G>A
XR_430568.2:n.4202G>A
XM_005262560.3:c.3445G>A XP_005262617.1:p.Asp1149Asn
XM_005262561.3:c.3349G>A XP_005262618.1:p.Asp1117Asn
XM_011531468.3:c.3502G>A XP_011529770.1:p.Asp1168Asn
XM_024452495.1:c.1570G>A XP_024308263.1:p.Asp524Asn
XM_024452496.1:c.1336G>A XP_024308264.1:p.Asp446Asn
XR_001756009.2:n.4318G>A
XR_001756010.2:n.4318G>A
XR_001756011.2:n.4183G>A
XR_001756012.2:n.4331G>A
XR_001756013.2:n.3649G>A
XR_002958832.1:n.3750G>A
XR_002958834.1:n.3974G>A
XR_002958835.1:n.3857G>A
XR_002958836.1:n.4540G>A
XR_002958837.1:n.4347G>A
XR_244571.4:n.3867G>A
XR_430568.4:n.4201G>A
NM_001146706.2:c.3409G>A NP_001140178.1:p.Asp1137Asn
NM_004653.5:c.3580G>A MANE Select NP_004644.2:p.Asp1194Asn
NM_001146705.2:c.3673G>A NP_001140177.1:p.Asp1225Asn