Canonical Allele Identifier: CA342127680
Community Standard Title: NM_005105.5(RBM8A):c.343-2A>G
Gene: RBM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.145926179T>C , CM000663.2:g.145926179T>C GRCh38
NC_000001.10:g.145508914A>G , CM000663.1:g.145508914A>G GRCh37
NC_000001.9:g.144220271A>G NCBI36
NG_032654.2:g.6358A>G , LRG_574:g.6358A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005105.5:c.343-2A>G MANE Select NP_005096.1:n.343-2A>G
ENST00000583313.7:c.343-2A>G MANE Select ENSP00000463058.2:n.343-2A>G
NM_005105.4:c.343-2A>G , LRG_574t1:c.343-2A>G NP_005096.1:n.343-2A>G
ENST00000369307.4:c.340-2A>G ENSP00000358313.3:n.340-2A>G
ENST00000498663.5:n.733-2A>G
ENST00000583313.6:c.343-2A>G ENSP00000463058.1:n.343-2A>G
ENST00000632040.1:c.138-2A>G
ENST00000632555.1:c.343-2A>G ENSP00000488265.1:n.343-2A>G
ENST00000633781.1:c.138-2A>G
ENST00000634130.1:n.261-2A>G
ENST00000691760.1:c.343-2A>G ENSP00000510519.1:n.343-2A>G
ENST00000692065.1:n.702-2A>G