Canonical Allele Identifier: CA114284
Gene: BCAM HGNC NCBI
COSMIC:
COSM4988536 (not active)
MyVariant.info:
GRCh38 chr19:g.44812188G>A
GRCh37 chr19:g.45315445G>A
Revel Score:
ENST00000270233 (MANE Select) 0.035
ENST00000391955 0.035
gnomAD v2:
19:45315445 G / A
gnomAD v3:
19:44812188 G / A
gnomAD v4:
chr19-44812188-G-A
Joint Max Group AF 0.03223189 (NFE)
Genomes Max Group AF 0.03033585 (NFE)
Exomes Max Group AF 0.03228826 (NFE)
ClinVar RCV:
RCV000000467
ClinVar Variation:
438
dbSNP:
28399653
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000270233.12:c.230G>A MANE Select ENSP00000270233.5:p.Arg77His
ENST00000591520.6:c.205-38G>A ENSP00000467100.2:n.205-38G>A
ENST00000611077.5:c.230G>A ENSP00000481153.1:p.Arg77His
ENST00000270233.10:c.230G>A ENSP00000270233.5:p.Arg77His
ENST00000588603.1:n.225G>A
ENST00000589651.5:c.230G>A ENSP00000476710.1:p.Arg77His
ENST00000591520.5:c.205-38G>A ENSP00000467100.1:n.205-38G>A
ENST00000611077.4:c.230G>A ENSP00000481153.1:p.Arg77His
NM_001013257.2:c.230G>A NP_001013275.1:p.Arg77His
NM_005581.4:c.230G>A NP_005572.2:p.Arg77His
NM_005581.5:c.230G>A MANE Select NP_005572.2:p.Arg77His
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