Canonical Allele Identifier: CA249835
Gene: RBM8A HGNC NCBI
LIX1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30465
ClinVar RCV Id: RCV000023419 RCV000172898 RCV001270062 RCV003415732
dbSNP Id: rs201779890
ExAC: 1:145507765 G / C
gnomAD v2: 1-145507765-G-C
gnomAD v3: 1-145927328-C-G
gnomAD v4: 1-145927328-C-G
MyVariant Identifiers: chr1:g.145507765G>C (hg19) chr1:g.145927328C>G (hg38)
PubMed: PMID:20301781 PMID:22366785
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.145927328C>G , CM000663.2:g.145927328C>G GRCh38
NC_000001.10:g.145507765G>C , CM000663.1:g.145507765G>C GRCh37
NC_000001.9:g.144219122G>C NCBI36
NG_032654.2:g.5209G>C , LRG_574:g.5209G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691760.1:c.67+32G>C (RBM8A) ENSP00000510519.1:n.67+32G>C
ENST00000692065.1:n.105+32G>C (RBM8A)
ENST00000583313.7:c.67+32G>C (RBM8A) MANE Select ENSP00000463058.2:n.67+32G>C
ENST00000369307.4:c.67+32G>C (RBM8A) ENSP00000358313.3:n.67+32G>C
ENST00000484825.1:n.136+32G>C (RBM8A)
ENST00000498663.5:n.136+32G>C (RBM8A)
ENST00000583313.6:c.67+32G>C (RBM8A) ENSP00000463058.1:n.67+32G>C
ENST00000625258.1:c.-30+39C>G ENSP00000487094.1:n.-30+39C>G
ENST00000630636.1:n.71C>G
ENST00000632555.1:c.67+32G>C (RBM8A) ENSP00000488265.1:n.67+32G>C
ENST00000634161.1:n.203+32G>C (RBM8A)
NM_005105.4:c.67+32G>C , LRG_574t1:c.67+32G>C (RBM8A) NP_005096.1:n.67+32G>C
NR_147182.1:n.381C>G (LIX1L-AS1)
NM_005105.5:c.67+32G>C (RBM8A) MANE Select NP_005096.1:n.67+32G>C
Search 100 bp 5'
Search 100 bp 3'