Canonical Allele Identifier: CA359172432

Gene: CMBL

Linked Data

• MyVariant Identifiers: chr5:g.10286491T>A (hg19) ; chr5:g.10286379T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10286379T>A , CM000667.2:g.10286379T>A	GRCh38
NC_000005.9:g.10286491T>A , CM000667.1:g.10286491T>A	GRCh37
NC_000005.8:g.10339491T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.441A>T MANE Select	ENSP00000296658.3:p.Glu147Asp
ENST00000296658.3:c.441A>T	ENSP00000296658.3:p.Glu147Asp
ENST00000506821.1:n.695A>T
ENST00000510532.5:n.509A>T
ENST00000511963.5:n.549A>T
NM_138809.3:c.441A>T	NP_620164.1:p.Glu147Asp
NM_138809.4:c.441A>T MANE Select	NP_620164.1:p.Glu147Asp