Canonical Allele Identifier: CA406313920

Gene: BCAM

Linked Data

• gnomAD v4: 19-44812225-G-T
• MyVariant Identifiers: chr19:g.45315482G>T (hg19) ; chr19:g.44812225G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44812225G>T , CM000681.2:g.44812225G>T	GRCh38
NC_000019.9:g.45315482G>T , CM000681.1:g.45315482G>T	GRCh37
NC_000019.8:g.50007322G>T	NCBI36
NG_007480.1:g.8145G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270233.12:c.267G>T MANE Select	ENSP00000270233.5:p.Gln89His
ENST00000591520.6:c.205-1G>T	ENSP00000467100.2:n.205-1G>T
ENST00000611077.5:c.267G>T	ENSP00000481153.1:p.Gln89His
ENST00000270233.10:c.267G>T	ENSP00000270233.5:p.Gln89His
ENST00000588603.1:n.262G>T
ENST00000589651.5:c.267G>T	ENSP00000476710.1:p.Gln89His
ENST00000591520.5:c.205-1G>T	ENSP00000467100.1:n.205-1G>T
ENST00000611077.4:c.267G>T	ENSP00000481153.1:p.Gln89His
NM_001013257.2:c.267G>T	NP_001013275.1:p.Gln89His
NM_005581.4:c.267G>T	NP_005572.2:p.Gln89His
NM_005581.5:c.267G>T MANE Select	NP_005572.2:p.Gln89His