Canonical Allele Identifier: CA337557730
Gene: RBMY1J HGNC NCBI

Linked Data

dbSNP Id: rs2268590
gnomAD v3: Y-22325559-C-G
gnomAD v4: Y-22325559-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.22325559C>G , CM000686.2:g.22325559C>G GRCh38
NC_000024.9:g.24471706C>G , CM000686.1:g.24471706C>G GRCh37
NC_000024.8:g.22881094C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000414629.6:c.-5+16589C>G ENSP00000405745.2:n.-5+16589C>G
ENST00000445779.6:c.-5+16589C>G ENSP00000389621.2:n.-5+16589C>G