Canonical Allele Identifier: CA359172811
Gene: CMBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286461T>C , CM000667.2:g.10286461T>C GRCh38
NC_000005.9:g.10286573T>C , CM000667.1:g.10286573T>C GRCh37
NC_000005.8:g.10339573T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.359A>G MANE Select ENSP00000296658.3:p.Gln120Arg
ENST00000296658.3:c.359A>G ENSP00000296658.3:p.Gln120Arg
ENST00000506821.1:n.613A>G
ENST00000510532.5:n.427A>G
ENST00000511963.5:n.467A>G
NM_138809.3:c.359A>G NP_620164.1:p.Gln120Arg
NM_138809.4:c.359A>G MANE Select NP_620164.1:p.Gln120Arg