Canonical Allele Identifier: CA337439781
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs13447377
gnomAD v3: Y-19705832-C-T
gnomAD v4: Y-19705832-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19705832C>T , CM000686.2:g.19705832C>T GRCh38
NC_000024.9:g.21867718C>T , CM000686.1:g.21867718C>T GRCh37
NC_000024.8:g.20327106C>T NCBI36
NG_032920.1:g.44108G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.*163G>A MANE Select ENSP00000322408.4:n.*163G>A
ENST00000317961.8:c.*163G>A ENSP00000322408.4:n.*163G>A
ENST00000382806.6:c.*163G>A ENSP00000372256.2:n.*163G>A
ENST00000469599.6:n.3534G>A
ENST00000492117.1:n.4828G>A
ENST00000541639.5:c.*163G>A ENSP00000444293.1:n.*163G>A
NM_001146705.1:c.*163G>A NP_001140177.1:n.*163G>A
NM_001146706.1:c.*163G>A NP_001140178.1:n.*163G>A
NM_004653.4:c.*163G>A NP_004644.2:n.*163G>A
XM_005262560.1:c.*163G>A XP_005262617.1:n.*163G>A
XM_005262561.1:c.*163G>A XP_005262618.1:n.*163G>A
XM_011531468.1:c.*163G>A XP_011529770.1:n.*163G>A
XR_430568.2:n.5558G>A
XM_005262560.3:c.*163G>A XP_005262617.1:n.*163G>A
XM_005262561.3:c.*163G>A XP_005262618.1:n.*163G>A
XM_011531468.3:c.*163G>A XP_011529770.1:n.*163G>A
XM_024452495.1:c.*163G>A XP_024308263.1:n.*163G>A
XM_024452496.1:c.*163G>A XP_024308264.1:n.*163G>A
XR_001756009.2:n.5521G>A
XR_001756010.2:n.5489G>A
XR_001756011.2:n.5386G>A
XR_001756012.2:n.5534G>A
XR_001756013.2:n.4852G>A
XR_002958832.1:n.5106G>A
XR_002958834.1:n.5177G>A
XR_002958835.1:n.5060G>A
XR_002958836.1:n.5711G>A
XR_002958837.1:n.5518G>A
XR_244571.4:n.5038G>A
XR_430568.4:n.5557G>A
NM_001146706.2:c.*163G>A NP_001140178.1:n.*163G>A
NM_004653.5:c.*163G>A MANE Select NP_004644.2:n.*163G>A
NM_001146705.2:c.*163G>A NP_001140177.1:n.*163G>A