Canonical Allele Identifier: CA359172713
Gene: CMBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286437A>C , CM000667.2:g.10286437A>C GRCh38
NC_000005.9:g.10286549A>C , CM000667.1:g.10286549A>C GRCh37
NC_000005.8:g.10339549A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.383T>G MANE Select ENSP00000296658.3:p.Ile128Ser
ENST00000296658.3:c.383T>G ENSP00000296658.3:p.Ile128Ser
ENST00000506821.1:n.637T>G
ENST00000510532.5:n.451T>G
ENST00000511963.5:n.491T>G
NM_138809.3:c.383T>G NP_620164.1:p.Ile128Ser
NM_138809.4:c.383T>G MANE Select NP_620164.1:p.Ile128Ser