Canonical Allele Identifier: CA2338120296
Community Standard Title: NM_005581.5(BCAM):c.230G= (p.Arg77=)
Gene: BCAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44812188G= , CM000681.2:g.44812188G= GRCh38
NC_000019.9:g.45315445G= , CM000681.1:g.45315445G= GRCh37
NC_000019.8:g.50007285G= NCBI36
NG_007480.1:g.8108G=

Transcript Alleles

HGVS Amino-acid Change
NM_005581.5:c.230G= MANE Select NP_005572.2:p.Arg77=
ENST00000270233.12:c.230G= MANE Select ENSP00000270233.5:p.Arg77=
NM_001013257.2:c.230G= NP_001013275.1:p.Arg77=
NM_005581.4:c.230G= NP_005572.2:p.Arg77=
ENST00000270233.10:c.230G= ENSP00000270233.5:p.Arg77=
ENST00000588603.1:n.225G=
ENST00000589651.5:c.230G= ENSP00000476710.1:p.Arg77=
ENST00000591520.5:c.205-38G= ENSP00000467100.1:n.205-38G=
ENST00000591520.6:c.205-38G= ENSP00000467100.2:n.205-38G=
ENST00000611077.4:c.230G= ENSP00000481153.1:p.Arg77=
ENST00000611077.5:c.230G= ENSP00000481153.1:p.Arg77=