Canonical Allele Identifier: CA443253979

Gene: CMBL

Linked Data

• MyVariant Identifiers: chr5:g.10286539G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10286427G>A , CM000667.2:g.10286427G>A	GRCh38
NC_000005.9:g.10286539G>A , CM000667.1:g.10286539G>A	GRCh37
NC_000005.8:g.10339539G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.393C>T MANE Select	ENSP00000296658.3:p.Phe131=
ENST00000296658.3:c.393C>T	ENSP00000296658.3:p.Phe131=
ENST00000506821.1:n.647C>T
ENST00000510532.5:n.461C>T
ENST00000511963.5:n.501C>T
NM_138809.3:c.393C>T	NP_620164.1:p.Phe131=
NM_138809.4:c.393C>T MANE Select	NP_620164.1:p.Phe131=