Canonical Allele Identifier: CA222836
Community Standard Title: NM_005105.5(RBM8A):c.*6C>G
Gene: RBM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.145925876G>C , CM000663.2:g.145925876G>C GRCh38
NC_000001.10:g.145509217C>G , CM000663.1:g.145509217C>G GRCh37
NC_000001.9:g.144220574C>G NCBI36
NG_032654.2:g.6661C>G , LRG_574:g.6661C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005105.5:c.*6C>G MANE Select NP_005096.1:n.*6C>G
ENST00000583313.7:c.*6C>G MANE Select ENSP00000463058.2:n.*6C>G
NM_005105.4:c.*6C>G , LRG_574t1:c.*6C>G NP_005096.1:n.*6C>G
ENST00000369307.4:c.*6C>G ENSP00000358313.3:n.*6C>G
ENST00000583313.6:c.*6C>G ENSP00000463058.1:n.*6C>G
ENST00000632040.1:c.326C>G
ENST00000632555.1:c.*3+3C>G ENSP00000488265.1:n.*3+3C>G
ENST00000633781.1:c.326C>G
ENST00000634130.1:n.449C>G
ENST00000691760.1:c.*6C>G ENSP00000510519.1:n.*6C>G
ENST00000692065.1:n.890C>G