Canonical Allele Identifier: CA3198624
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs745576546
ExAC: 5:10286577 G / A
gnomAD v2: 5-10286577-G-A
gnomAD v4: 5-10286465-G-A
MyVariant Identifiers: chr5:g.10286577G>A (hg19) chr5:g.10286465G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286465G>A , CM000667.2:g.10286465G>A GRCh38
NC_000005.9:g.10286577G>A , CM000667.1:g.10286577G>A GRCh37
NC_000005.8:g.10339577G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.355C>T MANE Select ENSP00000296658.3:p.Gln119Ter
ENST00000296658.3:c.355C>T ENSP00000296658.3:p.Gln119Ter
ENST00000506821.1:n.609C>T
ENST00000510532.5:n.423C>T
ENST00000511963.5:n.463C>T
NM_138809.3:c.355C>T NP_620164.1:p.Gln119Ter
NM_138809.4:c.355C>T MANE Select NP_620164.1:p.Gln119Ter
Search 100 bp 5'
Search 100 bp 3'