Canonical Allele Identifier: CA923787815
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs2045216509
gnomAD v3: Y-19703902-C-T
gnomAD v4: Y-19703902-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19703902C>T , CM000686.2:g.19703902C>T GRCh38
NC_000024.9:g.21865788C>T , CM000686.1:g.21865788C>T GRCh37
NC_000024.8:g.20325176C>T NCBI36
NG_032920.1:g.46038G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.*2093G>A MANE Select ENSP00000322408.4:n.*2093G>A
ENST00000469599.6:n.5464G>A
NM_001146706.2:c.*2093G>A NP_001140178.1:n.*2093G>A
NM_004653.5:c.*2093G>A MANE Select NP_004644.2:n.*2093G>A
NM_001146705.2:c.*2093G>A NP_001140177.1:n.*2093G>A
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