Canonical Allele Identifier: CA359172748
Gene: CMBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.10286558T>C (hg19) chr5:g.10286446T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286446T>C , CM000667.2:g.10286446T>C GRCh38
NC_000005.9:g.10286558T>C , CM000667.1:g.10286558T>C GRCh37
NC_000005.8:g.10339558T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.374A>G MANE Select ENSP00000296658.3:p.Lys125Arg
ENST00000296658.3:c.374A>G ENSP00000296658.3:p.Lys125Arg
ENST00000506821.1:n.628A>G
ENST00000510532.5:n.442A>G
ENST00000511963.5:n.482A>G
NM_138809.3:c.374A>G NP_620164.1:p.Lys125Arg
NM_138809.4:c.374A>G MANE Select NP_620164.1:p.Lys125Arg
Search 100 bp 5'
Search 100 bp 3'