Canonical Allele Identifier: CA9541701

Gene: BICRA

Linked Data

• dbSNP Id: rs767361952
• ExAC: 19:48183783 G / C
• gnomAD v2: 19-48183783-G-C
• gnomAD v3: 19-47680526-G-C
• gnomAD v4: 19-47680526-G-C
• MyVariant Identifiers: chr19:g.48183783G>C (hg19) ; chr19:g.47680526G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680526G>C , CM000681.2:g.47680526G>C	GRCh38
NC_000019.9:g.48183783G>C , CM000681.1:g.48183783G>C	GRCh37
NC_000019.8:g.52875595G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000594866.3:c.1356G>C MANE Select	ENSP00000469738.2:p.Leu452=
ENST00000614245.2:c.630G>C	ENSP00000480219.2:p.Leu210=
ENST00000396720.7:c.1356G>C	ENSP00000379946.2:p.Leu452=
ENST00000614245.1:c.1200G>C	ENSP00000480219.1:p.Leu400=
NM_015711.3:c.1356G>C	NP_056526.3:p.Leu452=
XM_005258833.3:c.1356G>C	XP_005258890.1:p.Leu452=
XM_006723180.2:c.1356G>C	XP_006723243.1:p.Leu452=
XM_011526882.1:c.1218G>C	XP_011525184.1:p.Leu406=
XM_011526883.1:c.1356G>C	XP_011525185.1:p.Leu452=
XM_005258833.4:c.1356G>C	XP_005258890.1:p.Leu452=
XM_006723180.3:c.1356G>C	XP_006723243.1:p.Leu452=
XM_011526882.2:c.1218G>C	XP_011525184.1:p.Leu406=
XM_011526883.2:c.1356G>C	XP_011525185.1:p.Leu452=
NM_001394372.1:c.1356G>C MANE Select	NP_001381301.1:p.Leu452=