Canonical Allele Identifier: CA359172365
Gene: CMBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286360C>A , CM000667.2:g.10286360C>A GRCh38
NC_000005.9:g.10286472C>A , CM000667.1:g.10286472C>A GRCh37
NC_000005.8:g.10339472C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000296658.4:c.460G>T MANE Select ENSP00000296658.3:p.Val154Phe
ENST00000296658.3:c.460G>T ENSP00000296658.3:p.Val154Phe
ENST00000506821.1:n.714G>T
ENST00000510532.5:n.528G>T
ENST00000511963.5:n.568G>T
NM_138809.3:c.460G>T NP_620164.1:p.Val154Phe
NM_138809.4:c.460G>T MANE Select NP_620164.1:p.Val154Phe