Canonical Allele Identifier: CA114288

Gene: BCAM

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270233.12:c.691C>T MANE Select	ENSP00000270233.5:p.Arg231Ter
ENST00000591520.6:c.628C>T	ENSP00000467100.2:p.Arg210Ter
ENST00000611077.5:c.691C>T	ENSP00000481153.1:p.Arg231Ter
ENST00000270233.10:c.691C>T	ENSP00000270233.5:p.Arg231Ter
ENST00000589651.5:c.691C>T	ENSP00000476710.1:p.Arg231Ter
ENST00000590108.1:n.289C>T
ENST00000590196.1:c.90C>T
ENST00000591520.5:c.628C>T	ENSP00000467100.1:p.Arg210Ter
ENST00000611077.4:c.691C>T	ENSP00000481153.1:p.Arg231Ter
NM_001013257.2:c.691C>T	NP_001013275.1:p.Arg231Ter
NM_005581.4:c.691C>T	NP_005572.2:p.Arg231Ter
NM_005581.5:c.691C>T MANE Select	NP_005572.2:p.Arg231Ter