Canonical Allele Identifier: CA414844494
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708009C>G , CM000686.2:g.19708009C>G GRCh38
NC_000024.9:g.21869895C>G , CM000686.1:g.21869895C>G GRCh37
NC_000024.8:g.20329283C>G NCBI36
NG_032920.1:g.41931G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3324G>C MANE Select ENSP00000322408.4:p.Lys1108Asn
ENST00000317961.8:c.3324G>C ENSP00000322408.4:p.Lys1108Asn
ENST00000382806.6:c.3153G>C ENSP00000372256.2:p.Lys1051Asn
ENST00000415360.1:c.240G>C ENSP00000389433.1:p.Lys80Asn
ENST00000440077.5:c.3201G>C ENSP00000398543.1:p.Lys1067Asn
ENST00000469599.6:n.1922G>C
ENST00000492117.1:n.3216G>C
ENST00000541639.5:c.3417G>C ENSP00000444293.1:p.Lys1139Asn
NM_001146705.1:c.3417G>C NP_001140177.1:p.Lys1139Asn
NM_001146706.1:c.3153G>C NP_001140178.1:p.Lys1051Asn
NM_004653.4:c.3324G>C NP_004644.2:p.Lys1108Asn
XM_005262560.1:c.3189G>C XP_005262617.1:p.Lys1063Asn
XM_005262561.1:c.3093G>C XP_005262618.1:p.Lys1031Asn
XM_011531468.1:c.3246G>C XP_011529770.1:p.Lys1082Asn
XR_244571.2:n.3612G>C
XR_430568.2:n.3946G>C
XM_005262560.3:c.3189G>C XP_005262617.1:p.Lys1063Asn
XM_005262561.3:c.3093G>C XP_005262618.1:p.Lys1031Asn
XM_011531468.3:c.3246G>C XP_011529770.1:p.Lys1082Asn
XM_024452495.1:c.1314G>C XP_024308263.1:p.Lys438Asn
XM_024452496.1:c.1080G>C XP_024308264.1:p.Lys360Asn
XR_001756009.2:n.4062G>C
XR_001756010.2:n.4062G>C
XR_001756011.2:n.3927G>C
XR_001756012.2:n.4075G>C
XR_001756013.2:n.3393G>C
XR_002958832.1:n.3494G>C
XR_002958834.1:n.3718G>C
XR_002958835.1:n.3601G>C
XR_002958836.1:n.4284G>C
XR_002958837.1:n.4091G>C
XR_244571.4:n.3611G>C
XR_430568.4:n.3945G>C
NM_001146706.2:c.3153G>C NP_001140178.1:p.Lys1051Asn
NM_004653.5:c.3324G>C MANE Select NP_004644.2:p.Lys1108Asn
NM_001146705.2:c.3417G>C NP_001140177.1:p.Lys1139Asn