Canonical Allele Identifier: CA406612160

Gene: BICRA

Linked Data

• gnomAD v4: 19-47680337-G-T
• MyVariant Identifiers: chr19:g.48183594G>T (hg19) ; chr19:g.47680337G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680337G>T , CM000681.2:g.47680337G>T	GRCh38
NC_000019.9:g.48183594G>T , CM000681.1:g.48183594G>T	GRCh37
NC_000019.8:g.52875406G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000594866.3:c.1167G>T MANE Select	ENSP00000469738.2:p.Gln389His
ENST00000614245.2:c.441G>T	ENSP00000480219.2:p.Gln147His
ENST00000396720.7:c.1167G>T	ENSP00000379946.2:p.Gln389His
ENST00000614245.1:c.1011G>T	ENSP00000480219.1:p.Gln337His
NM_015711.3:c.1167G>T	NP_056526.3:p.Gln389His
XM_005258833.3:c.1167G>T	XP_005258890.1:p.Gln389His
XM_006723180.2:c.1167G>T	XP_006723243.1:p.Gln389His
XM_011526882.1:c.1029G>T	XP_011525184.1:p.Gln343His
XM_011526883.1:c.1167G>T	XP_011525185.1:p.Gln389His
XM_005258833.4:c.1167G>T	XP_005258890.1:p.Gln389His
XM_006723180.3:c.1167G>T	XP_006723243.1:p.Gln389His
XM_011526882.2:c.1029G>T	XP_011525184.1:p.Gln343His
XM_011526883.2:c.1167G>T	XP_011525185.1:p.Gln389His
NM_001394372.1:c.1167G>T MANE Select	NP_001381301.1:p.Gln389His