Canonical Allele Identifier: CA359172680

Gene: CMBL

Linked Data

• MyVariant Identifiers: chr5:g.10286539G>T (hg19) ; chr5:g.10286427G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10286427G>T , CM000667.2:g.10286427G>T	GRCh38
NC_000005.9:g.10286539G>T , CM000667.1:g.10286539G>T	GRCh37
NC_000005.8:g.10339539G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.393C>A MANE Select	ENSP00000296658.3:p.Phe131Leu
ENST00000296658.3:c.393C>A	ENSP00000296658.3:p.Phe131Leu
ENST00000506821.1:n.647C>A
ENST00000510532.5:n.461C>A
ENST00000511963.5:n.501C>A
NM_138809.3:c.393C>A	NP_620164.1:p.Phe131Leu
NM_138809.4:c.393C>A MANE Select	NP_620164.1:p.Phe131Leu