Canonical Allele Identifier: CA113870894
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs1005706352
gnomAD v2: 5-10286476-C-T
gnomAD v4: 5-10286364-C-T
MyVariant Identifiers: chr5:g.10286476C>T (hg19) chr5:g.10286364C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286364C>T , CM000667.2:g.10286364C>T GRCh38
NC_000005.9:g.10286476C>T , CM000667.1:g.10286476C>T GRCh37
NC_000005.8:g.10339476C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000296658.4:c.456G>A MANE Select ENSP00000296658.3:p.Val152=
ENST00000296658.3:c.456G>A ENSP00000296658.3:p.Val152=
ENST00000506821.1:n.710G>A
ENST00000510532.5:n.524G>A
ENST00000511963.5:n.564G>A
NM_138809.3:c.456G>A NP_620164.1:p.Val152=
NM_138809.4:c.456G>A MANE Select NP_620164.1:p.Val152=
Search 100 bp 5'
Search 100 bp 3'