Canonical Allele Identifier: CA337557588
Gene: RBMY1J HGNC NCBI
RBMY2FP HGNC NCBI

Linked Data

dbSNP Id: rs2268591
gnomAD v3: Y-22318450-G-C
gnomAD v4: Y-22318450-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.22318450G>C , CM000686.2:g.22318450G>C GRCh38
NC_000024.9:g.24464597G>C , CM000686.1:g.24464597G>C GRCh37
NC_000024.8:g.22873985G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000414629.6:c.-5+9480G>C (RBMY1J) ENSP00000405745.2:n.-5+9480G>C
ENST00000420346.1:n.545-333G>C (RBMY2FP)
ENST00000445779.6:c.-5+9480G>C (RBMY1J) ENSP00000389621.2:n.-5+9480G>C
NR_104151.1:n.71-333G>C