Canonical Allele Identifier: CA3198618
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs534928794
ExAC: 5:10286550 T / A
gnomAD v3: 5-10286438-T-A
gnomAD v4: 5-10286438-T-A
MyVariant Identifiers: chr5:g.10286550T>A (hg19) chr5:g.10286438T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286438T>A , CM000667.2:g.10286438T>A GRCh38
NC_000005.9:g.10286550T>A , CM000667.1:g.10286550T>A GRCh37
NC_000005.8:g.10339550T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.382A>T MANE Select ENSP00000296658.3:p.Ile128Phe
ENST00000296658.3:c.382A>T ENSP00000296658.3:p.Ile128Phe
ENST00000506821.1:n.636A>T
ENST00000510532.5:n.450A>T
ENST00000511963.5:n.490A>T
NM_138809.3:c.382A>T NP_620164.1:p.Ile128Phe
NM_138809.4:c.382A>T MANE Select NP_620164.1:p.Ile128Phe
Search 100 bp 5'
Search 100 bp 3'