Canonical Allele Identifier: CA443254152
Gene: CMBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.10286563G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286451G>T , CM000667.2:g.10286451G>T GRCh38
NC_000005.9:g.10286563G>T , CM000667.1:g.10286563G>T GRCh37
NC_000005.8:g.10339563G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.369C>A MANE Select ENSP00000296658.3:p.Ala123=
ENST00000296658.3:c.369C>A ENSP00000296658.3:p.Ala123=
ENST00000506821.1:n.623C>A
ENST00000510532.5:n.437C>A
ENST00000511963.5:n.477C>A
NM_138809.3:c.369C>A NP_620164.1:p.Ala123=
NM_138809.4:c.369C>A MANE Select NP_620164.1:p.Ala123=