Canonical Allele Identifier: CA3198612
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs773199941
ExAC: 5:10286528 C / T
gnomAD v2: 5-10286528-C-T
gnomAD v4: 5-10286416-C-T
MyVariant Identifiers: chr5:g.10286528C>T (hg19) chr5:g.10286416C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286416C>T , CM000667.2:g.10286416C>T GRCh38
NC_000005.9:g.10286528C>T , CM000667.1:g.10286528C>T GRCh37
NC_000005.8:g.10339528C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.404G>A MANE Select ENSP00000296658.3:p.Gly135Glu
ENST00000296658.3:c.404G>A ENSP00000296658.3:p.Gly135Glu
ENST00000506821.1:n.658G>A
ENST00000510532.5:n.472G>A
ENST00000511963.5:n.512G>A
NM_138809.3:c.404G>A NP_620164.1:p.Gly135Glu
NM_138809.4:c.404G>A MANE Select NP_620164.1:p.Gly135Glu
Search 100 bp 5'
Search 100 bp 3'