Canonical Allele Identifier: CA443254011
Gene: CMBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.10286542T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286430T>G , CM000667.2:g.10286430T>G GRCh38
NC_000005.9:g.10286542T>G , CM000667.1:g.10286542T>G GRCh37
NC_000005.8:g.10339542T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.390A>C MANE Select ENSP00000296658.3:p.Gly130=
ENST00000296658.3:c.390A>C ENSP00000296658.3:p.Gly130=
ENST00000506821.1:n.644A>C
ENST00000510532.5:n.458A>C
ENST00000511963.5:n.498A>C
NM_138809.3:c.390A>C NP_620164.1:p.Gly130=
NM_138809.4:c.390A>C MANE Select NP_620164.1:p.Gly130=