Canonical Allele Identifier: CA359172473

Gene: CMBL

Linked Data

• MyVariant Identifiers: chr5:g.10286499A>G (hg19) ; chr5:g.10286387A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10286387A>G , CM000667.2:g.10286387A>G	GRCh38
NC_000005.9:g.10286499A>G , CM000667.1:g.10286499A>G	GRCh37
NC_000005.8:g.10339499A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.433T>C MANE Select	ENSP00000296658.3:p.Tyr145His
ENST00000296658.3:c.433T>C	ENSP00000296658.3:p.Tyr145His
ENST00000506821.1:n.687T>C
ENST00000510532.5:n.501T>C
ENST00000511963.5:n.541T>C
NM_138809.3:c.433T>C	NP_620164.1:p.Tyr145His
NM_138809.4:c.433T>C MANE Select	NP_620164.1:p.Tyr145His