Canonical Allele Identifier: CA3198620
Gene: CMBL HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'