Canonical Allele Identifier: CA3198620

Gene: CMBL

Linked Data

• dbSNP Id: rs777716530
• ExAC: 5:10286555 A / G
• gnomAD v2: 5-10286555-A-G
• gnomAD v3: 5-10286443-A-G
• gnomAD v4: 5-10286443-A-G
• MyVariant Identifiers: chr5:g.10286555A>G (hg19) ; chr5:g.10286443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10286443A>G , CM000667.2:g.10286443A>G	GRCh38
NC_000005.9:g.10286555A>G , CM000667.1:g.10286555A>G	GRCh37
NC_000005.8:g.10339555A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.377T>C MANE Select	ENSP00000296658.3:p.Ile126Thr
ENST00000296658.3:c.377T>C	ENSP00000296658.3:p.Ile126Thr
ENST00000506821.1:n.631T>C
ENST00000510532.5:n.445T>C
ENST00000511963.5:n.485T>C
NM_138809.3:c.377T>C	NP_620164.1:p.Ile126Thr
NM_138809.4:c.377T>C MANE Select	NP_620164.1:p.Ile126Thr