Canonical Allele Identifier: CA359172683
Gene: CMBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286428A>T , CM000667.2:g.10286428A>T GRCh38
NC_000005.9:g.10286540A>T , CM000667.1:g.10286540A>T GRCh37
NC_000005.8:g.10339540A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.392T>A MANE Select ENSP00000296658.3:p.Phe131Tyr
ENST00000296658.3:c.392T>A ENSP00000296658.3:p.Phe131Tyr
ENST00000506821.1:n.646T>A
ENST00000510532.5:n.460T>A
ENST00000511963.5:n.500T>A
NM_138809.3:c.392T>A NP_620164.1:p.Phe131Tyr
NM_138809.4:c.392T>A MANE Select NP_620164.1:p.Phe131Tyr