Canonical Allele Identifier: CA2766253010
Gene: KDM5D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19704510G>T , CM000686.2:g.19704510G>T GRCh38
NC_000024.9:g.21866396G>T , CM000686.1:g.21866396G>T GRCh37
NC_000024.8:g.20325784G>T NCBI36
NG_032920.1:g.45430C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.*1485C>A MANE Select ENSP00000322408.4:n.*1485C>A
ENST00000469599.6:n.4856C>A
NM_001146706.2:c.*1485C>A NP_001140178.1:n.*1485C>A
NM_004653.5:c.*1485C>A MANE Select NP_004644.2:n.*1485C>A
NM_001146705.2:c.*1485C>A NP_001140177.1:n.*1485C>A
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