Canonical Allele Identifier: CA2766253018
Gene: KDM5D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19704633C>A , CM000686.2:g.19704633C>A GRCh38
NC_000024.9:g.21866519C>A , CM000686.1:g.21866519C>A GRCh37
NC_000024.8:g.20325907C>A NCBI36
NG_032920.1:g.45307G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.*1362G>T MANE Select ENSP00000322408.4:n.*1362G>T
ENST00000469599.6:n.4733G>T
NM_001146706.2:c.*1362G>T NP_001140178.1:n.*1362G>T
NM_004653.5:c.*1362G>T MANE Select NP_004644.2:n.*1362G>T
NM_001146705.2:c.*1362G>T NP_001140177.1:n.*1362G>T
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