Canonical Allele Identifier: CA114284
Gene: BCAM HGNC NCBI

Linked Data

ClinVar Variation Id: 438
ClinVar RCV Id: RCV000000467
dbSNP Id: rs28399653
ExAC: 19:45315445 G / A
gnomAD v2: 19-45315445-G-A
gnomAD v3: 19-44812188-G-A
gnomAD v4: 19-44812188-G-A
MyVariant Identifiers: chr19:g.45315445G>A (hg19) chr19:g.44812188G>A (hg38)
PubMed: PMID:9166867 PMID:9192786 PMID:17319831
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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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