Canonical Allele Identifier: CA1055396

Gene: RBM8A

Genomic Alleles

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

Transcript Alleles

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