Canonical Allele Identifier: CA2338120912
Community Standard Title: NM_005581.5(BCAM):c.691C= (p.Arg231=)
Gene: BCAM HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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