Canonical Allele Identifier: CA359172688

Gene: CMBL

Linked Data

• MyVariant Identifiers: chr5:g.10286541A>T (hg19) ; chr5:g.10286429A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10286429A>T , CM000667.2:g.10286429A>T	GRCh38
NC_000005.9:g.10286541A>T , CM000667.1:g.10286541A>T	GRCh37
NC_000005.8:g.10339541A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.391T>A MANE Select	ENSP00000296658.3:p.Phe131Ile
ENST00000296658.3:c.391T>A	ENSP00000296658.3:p.Phe131Ile
ENST00000506821.1:n.645T>A
ENST00000510532.5:n.459T>A
ENST00000511963.5:n.499T>A
NM_138809.3:c.391T>A	NP_620164.1:p.Phe131Ile
NM_138809.4:c.391T>A MANE Select	NP_620164.1:p.Phe131Ile