Canonical Allele Identifier: CA337439694
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs2032629
gnomAD v3: Y-19703935-G-A
gnomAD v4: Y-19703935-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19703935G>A , CM000686.2:g.19703935G>A GRCh38
NC_000024.9:g.21865821G>A , CM000686.1:g.21865821G>A GRCh37
NC_000024.8:g.20325209G>A NCBI36
NG_032920.1:g.46005C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.*2060C>T MANE Select ENSP00000322408.4:n.*2060C>T
ENST00000469599.6:n.5431C>T
NM_001146706.2:c.*2060C>T NP_001140178.1:n.*2060C>T
NM_004653.5:c.*2060C>T MANE Select NP_004644.2:n.*2060C>T
NM_001146705.2:c.*2060C>T NP_001140177.1:n.*2060C>T