Canonical Allele Identifier: CA2470919004
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707989C= , CM000686.2:g.19707989C= GRCh38
NC_000024.9:g.21869875C= , CM000686.1:g.21869875C= GRCh37
NC_000024.8:g.20329263C= NCBI36
NG_032920.1:g.41951G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3344G= MANE Select ENSP00000322408.4:p.Cys1115=
ENST00000317961.8:c.3344G= ENSP00000322408.4:p.Cys1115=
ENST00000382806.6:c.3173G= ENSP00000372256.2:p.Cys1058=
ENST00000415360.1:c.260G= ENSP00000389433.1:p.Cys87=
ENST00000440077.5:c.3221G= ENSP00000398543.1:p.Cys1074=
ENST00000469599.6:n.1942G=
ENST00000492117.1:n.3236G=
ENST00000541639.5:c.3437G= ENSP00000444293.1:p.Cys1146=
NM_001146705.1:c.3437G= NP_001140177.1:p.Cys1146=
NM_001146706.1:c.3173G= NP_001140178.1:p.Cys1058=
NM_004653.4:c.3344G= NP_004644.2:p.Cys1115=
XM_005262560.1:c.3209G= XP_005262617.1:p.Cys1070=
XM_005262561.1:c.3113G= XP_005262618.1:p.Cys1038=
XM_011531468.1:c.3266G= XP_011529770.1:p.Cys1089=
XR_244571.2:n.3632G=
XR_430568.2:n.3966G=
XM_005262560.3:c.3209G= XP_005262617.1:p.Cys1070=
XM_005262561.3:c.3113G= XP_005262618.1:p.Cys1038=
XM_011531468.3:c.3266G= XP_011529770.1:p.Cys1089=
XM_024452495.1:c.1334G= XP_024308263.1:p.Cys445=
XM_024452496.1:c.1100G= XP_024308264.1:p.Cys367=
XR_001756009.2:n.4082G=
XR_001756010.2:n.4082G=
XR_001756011.2:n.3947G=
XR_001756012.2:n.4095G=
XR_001756013.2:n.3413G=
XR_002958832.1:n.3514G=
XR_002958834.1:n.3738G=
XR_002958835.1:n.3621G=
XR_002958836.1:n.4304G=
XR_002958837.1:n.4111G=
XR_244571.4:n.3631G=
XR_430568.4:n.3965G=
NM_001146706.2:c.3173G= NP_001140178.1:p.Cys1058=
NM_004653.5:c.3344G= MANE Select NP_004644.2:p.Cys1115=
NM_001146705.2:c.3437G= NP_001140177.1:p.Cys1146=