Canonical Allele Identifier: CA2766252993
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19703879G>T , CM000686.2:g.19703879G>T GRCh38
NC_000024.9:g.21865765G>T , CM000686.1:g.21865765G>T GRCh37
NC_000024.8:g.20325153G>T NCBI36
NG_032920.1:g.46061C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.*2116C>A MANE Select ENSP00000322408.4:n.*2116C>A
ENST00000469599.6:n.5487C>A
NM_001146706.2:c.*2116C>A NP_001140178.1:n.*2116C>A
NM_004653.5:c.*2116C>A MANE Select NP_004644.2:n.*2116C>A
NM_001146705.2:c.*2116C>A NP_001140177.1:n.*2116C>A