Canonical Allele Identifier: CA3198608
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs769211982
ExAC: 5:10286505 T / C
gnomAD v2: 5-10286505-T-C
gnomAD v3: 5-10286393-T-C
gnomAD v4: 5-10286393-T-C
MyVariant Identifiers: chr5:g.10286505T>C (hg19) chr5:g.10286393T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286393T>C , CM000667.2:g.10286393T>C GRCh38
NC_000005.9:g.10286505T>C , CM000667.1:g.10286505T>C GRCh37
NC_000005.8:g.10339505T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.427A>G MANE Select ENSP00000296658.3:p.Met143Val
ENST00000296658.3:c.427A>G ENSP00000296658.3:p.Met143Val
ENST00000506821.1:n.681A>G
ENST00000510532.5:n.495A>G
ENST00000511963.5:n.535A>G
NM_138809.3:c.427A>G NP_620164.1:p.Met143Val
NM_138809.4:c.427A>G MANE Select NP_620164.1:p.Met143Val
Search 100 bp 5'
Search 100 bp 3'