Canonical Allele Identifier: CA359172821

Gene: CMBL

Linked Data

• MyVariant Identifiers: chr5:g.10286575T>G (hg19) ; chr5:g.10286463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10286463T>G , CM000667.2:g.10286463T>G	GRCh38
NC_000005.9:g.10286575T>G , CM000667.1:g.10286575T>G	GRCh37
NC_000005.8:g.10339575T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.357A>C MANE Select	ENSP00000296658.3:p.Gln119His
ENST00000296658.3:c.357A>C	ENSP00000296658.3:p.Gln119His
ENST00000506821.1:n.611A>C
ENST00000510532.5:n.425A>C
ENST00000511963.5:n.465A>C
NM_138809.3:c.357A>C	NP_620164.1:p.Gln119His
NM_138809.4:c.357A>C MANE Select	NP_620164.1:p.Gln119His