Canonical Allele Identifier: CA342124215

Gene: PEX11B RBM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.145917749G>A , CM000663.2:g.145917749G>A	GRCh38
NC_000001.10:g.145517340C>T , CM000663.1:g.145517340C>T	GRCh37
NC_000001.9:g.144228697C>T	NCBI36
NG_032654.2:g.14788C>T , LRG_574:g.14788C>T
NG_033000.3:g.6176C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003846.3:c.124C>T (PEX11B) MANE Select	NP_003837.1:p.Gln42Ter
ENST00000369306.8:c.124C>T (PEX11B) MANE Select	ENSP00000358312.3:p.Gln42Ter
NM_001184795.1:c.82C>T (PEX11B)	NP_001171724.1:p.Gln28Ter
NM_003846.2:c.124C>T (PEX11B)	NP_003837.1:p.Gln42Ter
NR_073491.1:n.356C>T (PEX11B)
NR_073491.2:n.149C>T (PEX11B)
NR_073492.1:n.350C>T (PEX11B)
NR_073492.2:n.143C>T (PEX11B)
NR_073493.2:n.572C>T (PEX11B)
ENST00000369306.7:c.124C>T (PEX11B)	ENSP00000358312.3:p.Gln42Ter
ENST00000537888.1:c.82C>T (PEX11B)	ENSP00000437510.1:p.Gln28Ter
ENST00000634130.1:n.530C>T (RBM8A)