Canonical Allele Identifier: CA414844567
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708023G>A , CM000686.2:g.19708023G>A GRCh38
NC_000024.9:g.21869909G>A , CM000686.1:g.21869909G>A GRCh37
NC_000024.8:g.20329297G>A NCBI36
NG_032920.1:g.41917C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3310C>T MANE Select ENSP00000322408.4:p.Arg1104Trp
ENST00000317961.8:c.3310C>T ENSP00000322408.4:p.Arg1104Trp
ENST00000382806.6:c.3139C>T ENSP00000372256.2:p.Arg1047Trp
ENST00000415360.1:c.226C>T ENSP00000389433.1:p.Arg76Trp
ENST00000440077.5:c.3187C>T ENSP00000398543.1:p.Arg1063Trp
ENST00000469599.6:n.1908C>T
ENST00000492117.1:n.3202C>T
ENST00000541639.5:c.3403C>T ENSP00000444293.1:p.Arg1135Trp
NM_001146705.1:c.3403C>T NP_001140177.1:p.Arg1135Trp
NM_001146706.1:c.3139C>T NP_001140178.1:p.Arg1047Trp
NM_004653.4:c.3310C>T NP_004644.2:p.Arg1104Trp
XM_005262560.1:c.3175C>T XP_005262617.1:p.Arg1059Trp
XM_005262561.1:c.3079C>T XP_005262618.1:p.Arg1027Trp
XM_011531468.1:c.3232C>T XP_011529770.1:p.Arg1078Trp
XR_244571.2:n.3598C>T
XR_430568.2:n.3932C>T
XM_005262560.3:c.3175C>T XP_005262617.1:p.Arg1059Trp
XM_005262561.3:c.3079C>T XP_005262618.1:p.Arg1027Trp
XM_011531468.3:c.3232C>T XP_011529770.1:p.Arg1078Trp
XM_024452495.1:c.1300C>T XP_024308263.1:p.Arg434Trp
XM_024452496.1:c.1066C>T XP_024308264.1:p.Arg356Trp
XR_001756009.2:n.4048C>T
XR_001756010.2:n.4048C>T
XR_001756011.2:n.3913C>T
XR_001756012.2:n.4061C>T
XR_001756013.2:n.3379C>T
XR_002958832.1:n.3480C>T
XR_002958834.1:n.3704C>T
XR_002958835.1:n.3587C>T
XR_002958836.1:n.4270C>T
XR_002958837.1:n.4077C>T
XR_244571.4:n.3597C>T
XR_430568.4:n.3931C>T
NM_001146706.2:c.3139C>T NP_001140178.1:p.Arg1047Trp
NM_004653.5:c.3310C>T MANE Select NP_004644.2:p.Arg1104Trp
NM_001146705.2:c.3403C>T NP_001140177.1:p.Arg1135Trp