Canonical Allele Identifier: CA3198608

Gene: CMBL

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)

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