Canonical Allele Identifier: CA9504299

Gene: BCAM

Linked Data

• dbSNP Id: rs28399653
• ExAC: 19:45315445 G / C
• gnomAD v2: 19-45315445-G-C
• gnomAD v4: 19-44812188-G-C
• MyVariant Identifiers: chr19:g.45315445G>C (hg19) ; chr19:g.44812188G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000270233.12:c.230G>C MANE Select	ENSP00000270233.5:p.Arg77Pro
ENST00000591520.6:c.205-38G>C	ENSP00000467100.2:n.205-38G>C
ENST00000611077.5:c.230G>C	ENSP00000481153.1:p.Arg77Pro
ENST00000270233.10:c.230G>C	ENSP00000270233.5:p.Arg77Pro
ENST00000588603.1:n.225G>C
ENST00000589651.5:c.230G>C	ENSP00000476710.1:p.Arg77Pro
ENST00000591520.5:c.205-38G>C	ENSP00000467100.1:n.205-38G>C
ENST00000611077.4:c.230G>C	ENSP00000481153.1:p.Arg77Pro
NM_001013257.2:c.230G>C	NP_001013275.1:p.Arg77Pro
NM_005581.4:c.230G>C	NP_005572.2:p.Arg77Pro
NM_005581.5:c.230G>C MANE Select	NP_005572.2:p.Arg77Pro