Canonical Allele Identifier: CA406612157

Gene: BICRA

Linked Data

• dbSNP Id: rs1236678909
• gnomAD v2: 19-48183593-A-G
• gnomAD v4: 19-47680336-A-G
• MyVariant Identifiers: chr19:g.48183593A>G (hg19) ; chr19:g.47680336A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680336A>G , CM000681.2:g.47680336A>G	GRCh38
NC_000019.9:g.48183593A>G , CM000681.1:g.48183593A>G	GRCh37
NC_000019.8:g.52875405A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000594866.3:c.1166A>G MANE Select	ENSP00000469738.2:p.Gln389Arg
ENST00000614245.2:c.440A>G	ENSP00000480219.2:p.Gln147Arg
ENST00000396720.7:c.1166A>G	ENSP00000379946.2:p.Gln389Arg
ENST00000614245.1:c.1010A>G	ENSP00000480219.1:p.Gln337Arg
NM_015711.3:c.1166A>G	NP_056526.3:p.Gln389Arg
XM_005258833.3:c.1166A>G	XP_005258890.1:p.Gln389Arg
XM_006723180.2:c.1166A>G	XP_006723243.1:p.Gln389Arg
XM_011526882.1:c.1028A>G	XP_011525184.1:p.Gln343Arg
XM_011526883.1:c.1166A>G	XP_011525185.1:p.Gln389Arg
XM_005258833.4:c.1166A>G	XP_005258890.1:p.Gln389Arg
XM_006723180.3:c.1166A>G	XP_006723243.1:p.Gln389Arg
XM_011526882.2:c.1028A>G	XP_011525184.1:p.Gln343Arg
XM_011526883.2:c.1166A>G	XP_011525185.1:p.Gln389Arg
NM_001394372.1:c.1166A>G MANE Select	NP_001381301.1:p.Gln389Arg