Canonical Allele Identifier: CA443253891
Gene: CMBL HGNC NCBI

Linked Data

gnomAD v4: 5-10286406-G-C
MyVariant Identifiers: chr5:g.10286518G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286406G>C , CM000667.2:g.10286406G>C GRCh38
NC_000005.9:g.10286518G>C , CM000667.1:g.10286518G>C GRCh37
NC_000005.8:g.10339518G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.414C>G MANE Select ENSP00000296658.3:p.Val138=
ENST00000296658.3:c.414C>G ENSP00000296658.3:p.Val138=
ENST00000506821.1:n.668C>G
ENST00000510532.5:n.482C>G
ENST00000511963.5:n.522C>G
NM_138809.3:c.414C>G NP_620164.1:p.Val138=
NM_138809.4:c.414C>G MANE Select NP_620164.1:p.Val138=
Search 100 bp 5'
Search 100 bp 3'