Canonical Allele Identifier: CA359172495
Gene: CMBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.10286502T>C (hg19) chr5:g.10286390T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286390T>C , CM000667.2:g.10286390T>C GRCh38
NC_000005.9:g.10286502T>C , CM000667.1:g.10286502T>C GRCh37
NC_000005.8:g.10339502T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.430A>G MANE Select ENSP00000296658.3:p.Lys144Glu
ENST00000296658.3:c.430A>G ENSP00000296658.3:p.Lys144Glu
ENST00000506821.1:n.684A>G
ENST00000510532.5:n.498A>G
ENST00000511963.5:n.538A>G
NM_138809.3:c.430A>G NP_620164.1:p.Lys144Glu
NM_138809.4:c.430A>G MANE Select NP_620164.1:p.Lys144Glu
Search 100 bp 5'
Search 100 bp 3'