Canonical Allele Identifier: CA443253912
Gene: CMBL HGNC NCBI

Linked Data

gnomAD v4: 5-10286415-T-A
MyVariant Identifiers: chr5:g.10286527T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286415T>A , CM000667.2:g.10286415T>A GRCh38
NC_000005.9:g.10286527T>A , CM000667.1:g.10286527T>A GRCh37
NC_000005.8:g.10339527T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.405A>T MANE Select ENSP00000296658.3:p.Gly135=
ENST00000296658.3:c.405A>T ENSP00000296658.3:p.Gly135=
ENST00000506821.1:n.659A>T
ENST00000510532.5:n.473A>T
ENST00000511963.5:n.513A>T
NM_138809.3:c.405A>T NP_620164.1:p.Gly135=
NM_138809.4:c.405A>T MANE Select NP_620164.1:p.Gly135=