Canonical Allele Identifier: CA443253930
Gene: CMBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.10286530A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286418A>C , CM000667.2:g.10286418A>C GRCh38
NC_000005.9:g.10286530A>C , CM000667.1:g.10286530A>C GRCh37
NC_000005.8:g.10339530A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.402T>G MANE Select ENSP00000296658.3:p.Gly134=
ENST00000296658.3:c.402T>G ENSP00000296658.3:p.Gly134=
ENST00000506821.1:n.656T>G
ENST00000510532.5:n.470T>G
ENST00000511963.5:n.510T>G
NM_138809.3:c.402T>G NP_620164.1:p.Gly134=
NM_138809.4:c.402T>G MANE Select NP_620164.1:p.Gly134=