Canonical Allele Identifier: CA923853955
Gene: RBMY1J HGNC NCBI
RBMY2FP HGNC NCBI

Linked Data

dbSNP Id: rs2090012771
gnomAD v3: Y-22318478-T-C
gnomAD v4: Y-22318478-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.22318478T>C , CM000686.2:g.22318478T>C GRCh38
NC_000024.9:g.24464625T>C , CM000686.1:g.24464625T>C GRCh37
NC_000024.8:g.22874013T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000414629.6:c.-5+9508T>C (RBMY1J) ENSP00000405745.2:n.-5+9508T>C
ENST00000420346.1:n.545-305T>C (RBMY2FP)
ENST00000445779.6:c.-5+9508T>C (RBMY1J) ENSP00000389621.2:n.-5+9508T>C
NR_104151.1:n.71-305T>C
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