Canonical Allele Identifier: CA337439722
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs2032612
gnomAD v3: Y-19704605-C-T
gnomAD v4: Y-19704605-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19704605C>T , CM000686.2:g.19704605C>T GRCh38
NC_000024.9:g.21866491C>T , CM000686.1:g.21866491C>T GRCh37
NC_000024.8:g.20325879C>T NCBI36
NG_032920.1:g.45335G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.*1390G>A MANE Select ENSP00000322408.4:n.*1390G>A
ENST00000469599.6:n.4761G>A
NM_001146706.2:c.*1390G>A NP_001140178.1:n.*1390G>A
NM_004653.5:c.*1390G>A MANE Select NP_004644.2:n.*1390G>A
NM_001146705.2:c.*1390G>A NP_001140177.1:n.*1390G>A