Canonical Allele Identifier: CA359172448
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs1746604273
gnomAD v4: 5-10286383-G-C
MyVariant Identifiers: chr5:g.10286495G>C (hg19) chr5:g.10286383G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286383G>C , CM000667.2:g.10286383G>C GRCh38
NC_000005.9:g.10286495G>C , CM000667.1:g.10286495G>C GRCh37
NC_000005.8:g.10339495G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.437C>G MANE Select ENSP00000296658.3:p.Ser146Ter
ENST00000296658.3:c.437C>G ENSP00000296658.3:p.Ser146Ter
ENST00000506821.1:n.691C>G
ENST00000510532.5:n.505C>G
ENST00000511963.5:n.545C>G
NM_138809.3:c.437C>G NP_620164.1:p.Ser146Ter
NM_138809.4:c.437C>G MANE Select NP_620164.1:p.Ser146Ter
Search 100 bp 5'
Search 100 bp 3'