Canonical Allele Identifier: CA507946514
Community Standard Title: NM_005581.5(BCAM):c.691C>A (p.Arg231=)
Gene: BCAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44813527C>A , CM000681.2:g.44813527C>A GRCh38
NC_000019.9:g.45316784C>A , CM000681.1:g.45316784C>A GRCh37
NC_000019.8:g.50008624C>A NCBI36
NG_007480.1:g.9447C>A

Transcript Alleles

HGVS Amino-acid Change
NM_005581.5:c.691C>A MANE Select NP_005572.2:p.Arg231=
ENST00000270233.12:c.691C>A MANE Select ENSP00000270233.5:p.Arg231=
NM_001013257.2:c.691C>A NP_001013275.1:p.Arg231=
NM_005581.4:c.691C>A NP_005572.2:p.Arg231=
ENST00000270233.10:c.691C>A ENSP00000270233.5:p.Arg231=
ENST00000589651.5:c.691C>A ENSP00000476710.1:p.Arg231=
ENST00000590108.1:n.289C>A
ENST00000590196.1:c.90C>A
ENST00000591520.5:c.628C>A ENSP00000467100.1:p.Arg210=
ENST00000591520.6:c.628C>A ENSP00000467100.2:p.Arg210=
ENST00000611077.4:c.691C>A ENSP00000481153.1:p.Arg231=
ENST00000611077.5:c.691C>A ENSP00000481153.1:p.Arg231=