Canonical Allele Identifier: CA359172594
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs1034529005
MyVariant Identifiers: chr5:g.10286516T>C (hg19) chr5:g.10286404T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286404T>C , CM000667.2:g.10286404T>C GRCh38
NC_000005.9:g.10286516T>C , CM000667.1:g.10286516T>C GRCh37
NC_000005.8:g.10339516T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.416A>G MANE Select ENSP00000296658.3:p.His139Arg
ENST00000296658.3:c.416A>G ENSP00000296658.3:p.His139Arg
ENST00000506821.1:n.670A>G
ENST00000510532.5:n.484A>G
ENST00000511963.5:n.524A>G
NM_138809.3:c.416A>G NP_620164.1:p.His139Arg
NM_138809.4:c.416A>G MANE Select NP_620164.1:p.His139Arg
Search 100 bp 5'
Search 100 bp 3'