Canonical Allele Identifier: CA3198600

Gene: CMBL

Linked Data

• dbSNP Id: rs142499932
• ExAC: 5:10286473 G / A
• gnomAD v2: 5-10286473-G-A
• gnomAD v3: 5-10286361-G-A
• gnomAD v4: 5-10286361-G-A
• MyVariant Identifiers: chr5:g.10286473G>A (hg19) ; chr5:g.10286361G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10286361G>A , CM000667.2:g.10286361G>A	GRCh38
NC_000005.9:g.10286473G>A , CM000667.1:g.10286473G>A	GRCh37
NC_000005.8:g.10339473G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.459C>T MANE Select	ENSP00000296658.3:p.Ser153=
ENST00000296658.3:c.459C>T	ENSP00000296658.3:p.Ser153=
ENST00000506821.1:n.713C>T
ENST00000510532.5:n.527C>T
ENST00000511963.5:n.567C>T
NM_138809.3:c.459C>T	NP_620164.1:p.Ser153=
NM_138809.4:c.459C>T MANE Select	NP_620164.1:p.Ser153=