Canonical Allele Identifier: CA508257625

Gene: BICRA

Linked Data

• dbSNP Id: rs1973019339
• gnomAD v4: 19-47680334-G-A
• MyVariant Identifiers: chr19:g.48183591G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680334G>A , CM000681.2:g.47680334G>A	GRCh38
NC_000019.9:g.48183591G>A , CM000681.1:g.48183591G>A	GRCh37
NC_000019.8:g.52875403G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000594866.3:c.1164G>A MANE Select	ENSP00000469738.2:p.Pro388=
ENST00000614245.2:c.438G>A	ENSP00000480219.2:p.Pro146=
ENST00000396720.7:c.1164G>A	ENSP00000379946.2:p.Pro388=
ENST00000614245.1:c.1008G>A	ENSP00000480219.1:p.Pro336=
NM_015711.3:c.1164G>A	NP_056526.3:p.Pro388=
XM_005258833.3:c.1164G>A	XP_005258890.1:p.Pro388=
XM_006723180.2:c.1164G>A	XP_006723243.1:p.Pro388=
XM_011526882.1:c.1026G>A	XP_011525184.1:p.Pro342=
XM_011526883.1:c.1164G>A	XP_011525185.1:p.Pro388=
XM_005258833.4:c.1164G>A	XP_005258890.1:p.Pro388=
XM_006723180.3:c.1164G>A	XP_006723243.1:p.Pro388=
XM_011526882.2:c.1026G>A	XP_011525184.1:p.Pro342=
XM_011526883.2:c.1164G>A	XP_011525185.1:p.Pro388=
NM_001394372.1:c.1164G>A MANE Select	NP_001381301.1:p.Pro388=