Canonical Allele Identifier: CA406612153

Gene: BICRA

Linked Data

• gnomAD v4: 19-47680335-C-A
• MyVariant Identifiers: chr19:g.48183592C>A (hg19) ; chr19:g.47680335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680335C>A , CM000681.2:g.47680335C>A	GRCh38
NC_000019.9:g.48183592C>A , CM000681.1:g.48183592C>A	GRCh37
NC_000019.8:g.52875404C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594866.3:c.1165C>A MANE Select	ENSP00000469738.2:p.Gln389Lys
ENST00000614245.2:c.439C>A	ENSP00000480219.2:p.Gln147Lys
ENST00000396720.7:c.1165C>A	ENSP00000379946.2:p.Gln389Lys
ENST00000614245.1:c.1009C>A	ENSP00000480219.1:p.Gln337Lys
NM_015711.3:c.1165C>A	NP_056526.3:p.Gln389Lys
XM_005258833.3:c.1165C>A	XP_005258890.1:p.Gln389Lys
XM_006723180.2:c.1165C>A	XP_006723243.1:p.Gln389Lys
XM_011526882.1:c.1027C>A	XP_011525184.1:p.Gln343Lys
XM_011526883.1:c.1165C>A	XP_011525185.1:p.Gln389Lys
XM_005258833.4:c.1165C>A	XP_005258890.1:p.Gln389Lys
XM_006723180.3:c.1165C>A	XP_006723243.1:p.Gln389Lys
XM_011526882.2:c.1027C>A	XP_011525184.1:p.Gln343Lys
XM_011526883.2:c.1165C>A	XP_011525185.1:p.Gln389Lys
NM_001394372.1:c.1165C>A MANE Select	NP_001381301.1:p.Gln389Lys