Canonical Allele Identifier: CA443253881
Gene: CMBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.10286515A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286403A>G , CM000667.2:g.10286403A>G GRCh38
NC_000005.9:g.10286515A>G , CM000667.1:g.10286515A>G GRCh37
NC_000005.8:g.10339515A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.417T>C MANE Select ENSP00000296658.3:p.His139=
ENST00000296658.3:c.417T>C ENSP00000296658.3:p.His139=
ENST00000506821.1:n.671T>C
ENST00000510532.5:n.485T>C
ENST00000511963.5:n.525T>C
NM_138809.3:c.417T>C NP_620164.1:p.His139=
NM_138809.4:c.417T>C MANE Select NP_620164.1:p.His139=
Search 100 bp 5'
Search 100 bp 3'