Canonical Allele Identifier: CA249745
Gene: RBM8A HGNC NCBI
LIX1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30464
dbSNP Id: rs139428292

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.145927447C>T , CM000663.2:g.145927447C>T GRCh38
NC_000001.10:g.145507646G>A , CM000663.1:g.145507646G>A GRCh37
NC_000001.9:g.144219003G>A NCBI36
NG_032654.2:g.5090G>A , LRG_574:g.5090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691760.1:c.-21G>A (RBM8A) ENSP00000510519.1:n.-21G>A
ENST00000692065.1:n.18G>A (RBM8A)
ENST00000583313.7:c.-21G>A (RBM8A) MANE Select ENSP00000463058.2:n.-21G>A
ENST00000369307.4:c.-21G>A (RBM8A) ENSP00000358313.3:n.-21G>A
ENST00000484825.1:n.49G>A (RBM8A)
ENST00000498663.5:n.49G>A (RBM8A)
ENST00000583313.6:c.-21G>A (RBM8A) ENSP00000463058.1:n.-21G>A
ENST00000625258.1:c.-30+158C>T ENSP00000487094.1:n.-30+158C>T
ENST00000630636.1:n.190C>T
ENST00000632555.1:c.-21G>A (RBM8A) ENSP00000488265.1:n.-21G>A
ENST00000634161.1:n.116G>A (RBM8A)
NM_005105.4:c.-21G>A , LRG_574t1:c.-21G>A (RBM8A) NP_005096.1:n.-21G>A
NR_147182.1:n.500C>T (LIX1L-AS1)
NM_005105.5:c.-21G>A (RBM8A) MANE Select NP_005096.1:n.-21G>A