Canonical Allele Identifier: CA443254073
Gene: CMBL HGNC NCBI

Linked Data

gnomAD v4: 5-10286439-G-C
MyVariant Identifiers: chr5:g.10286551G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286439G>C , CM000667.2:g.10286439G>C GRCh38
NC_000005.9:g.10286551G>C , CM000667.1:g.10286551G>C GRCh37
NC_000005.8:g.10339551G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.381C>G MANE Select ENSP00000296658.3:p.Gly127=
ENST00000296658.3:c.381C>G ENSP00000296658.3:p.Gly127=
ENST00000506821.1:n.635C>G
ENST00000510532.5:n.449C>G
ENST00000511963.5:n.489C>G
NM_138809.3:c.381C>G NP_620164.1:p.Gly127=
NM_138809.4:c.381C>G MANE Select NP_620164.1:p.Gly127=
Search 100 bp 5'
Search 100 bp 3'