Canonical Allele Identifier: CA414844472
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708004A>G , CM000686.2:g.19708004A>G GRCh38
NC_000024.9:g.21869890A>G , CM000686.1:g.21869890A>G GRCh37
NC_000024.8:g.20329278A>G NCBI36
NG_032920.1:g.41936T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3329T>C MANE Select ENSP00000322408.4:p.Leu1110Pro
ENST00000317961.8:c.3329T>C ENSP00000322408.4:p.Leu1110Pro
ENST00000382806.6:c.3158T>C ENSP00000372256.2:p.Leu1053Pro
ENST00000415360.1:c.245T>C ENSP00000389433.1:p.Leu82Pro
ENST00000440077.5:c.3206T>C ENSP00000398543.1:p.Leu1069Pro
ENST00000469599.6:n.1927T>C
ENST00000492117.1:n.3221T>C
ENST00000541639.5:c.3422T>C ENSP00000444293.1:p.Leu1141Pro
NM_001146705.1:c.3422T>C NP_001140177.1:p.Leu1141Pro
NM_001146706.1:c.3158T>C NP_001140178.1:p.Leu1053Pro
NM_004653.4:c.3329T>C NP_004644.2:p.Leu1110Pro
XM_005262560.1:c.3194T>C XP_005262617.1:p.Leu1065Pro
XM_005262561.1:c.3098T>C XP_005262618.1:p.Leu1033Pro
XM_011531468.1:c.3251T>C XP_011529770.1:p.Leu1084Pro
XR_244571.2:n.3617T>C
XR_430568.2:n.3951T>C
XM_005262560.3:c.3194T>C XP_005262617.1:p.Leu1065Pro
XM_005262561.3:c.3098T>C XP_005262618.1:p.Leu1033Pro
XM_011531468.3:c.3251T>C XP_011529770.1:p.Leu1084Pro
XM_024452495.1:c.1319T>C XP_024308263.1:p.Leu440Pro
XM_024452496.1:c.1085T>C XP_024308264.1:p.Leu362Pro
XR_001756009.2:n.4067T>C
XR_001756010.2:n.4067T>C
XR_001756011.2:n.3932T>C
XR_001756012.2:n.4080T>C
XR_001756013.2:n.3398T>C
XR_002958832.1:n.3499T>C
XR_002958834.1:n.3723T>C
XR_002958835.1:n.3606T>C
XR_002958836.1:n.4289T>C
XR_002958837.1:n.4096T>C
XR_244571.4:n.3616T>C
XR_430568.4:n.3950T>C
NM_001146706.2:c.3158T>C NP_001140178.1:p.Leu1053Pro
NM_004653.5:c.3329T>C MANE Select NP_004644.2:p.Leu1110Pro
NM_001146705.2:c.3422T>C NP_001140177.1:p.Leu1141Pro