Canonical Allele Identifier: CA16138576
Gene: RBMS3 HGNC NCBI
LINC00693 HGNC NCBI

Linked Data

dbSNP Id: rs1381392
gnomAD v2: 3-28749314-G-A
gnomAD v3: 3-28707823-G-A
gnomAD v4: 3-28707823-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.28707823G>A , CM000665.2:g.28707823G>A GRCh38
NC_000003.11:g.28749314G>A , CM000665.1:g.28749314G>A GRCh37
NC_000003.10:g.28724318G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000432518.6:n.810-48935G>A
ENST00000443912.5:n.87-28186G>A
ENST00000445077.1:n.70-49286G>A
ENST00000635992.1:c.*339+131327G>A ENSP00000489994.1:n.*339+131327G>A
ENST00000636680.2:c.213+131327G>A (RBMS3) ENSP00000490271.2:n.213+131327G>A
NR_038840.1:n.323-48935G>A (LINC00693)