Canonical Allele Identifier: CA443253822
Gene: CMBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.10286482T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286370T>C , CM000667.2:g.10286370T>C GRCh38
NC_000005.9:g.10286482T>C , CM000667.1:g.10286482T>C GRCh37
NC_000005.8:g.10339482T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.450A>G MANE Select ENSP00000296658.3:p.Ala150=
ENST00000296658.3:c.450A>G ENSP00000296658.3:p.Ala150=
ENST00000506821.1:n.704A>G
ENST00000510532.5:n.518A>G
ENST00000511963.5:n.558A>G
NM_138809.3:c.450A>G NP_620164.1:p.Ala150=
NM_138809.4:c.450A>G MANE Select NP_620164.1:p.Ala150=