Canonical Allele Identifier: CA14704092
Gene: BICRA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.47702468T>C
GRCh37 chr19:g.48205725T>C
gnomAD v2:
19:48205725 T / C
gnomAD v3:
19:47702468 T / C
gnomAD v4:
chr19-47702468-T-C
Joint Max Group AF 0.54191491 (AFR)
Genomes Max Group AF 0.53585014 (AFR)
Exomes Max Group AF 0.54711681 (AFR)
dbSNP:
3745760
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47702468T>C , CM000681.2:g.47702468T>C GRCh38
NC_000019.9:g.48205725T>C , CM000681.1:g.48205725T>C GRCh37
NC_000019.8:g.52897537T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000594866.3:c.*53T>C MANE Select ENSP00000469738.2:n.*53T>C
ENST00000614245.2:c.*53T>C ENSP00000480219.2:n.*53T>C
ENST00000396720.7:c.*53T>C ENSP00000379946.2:n.*53T>C
ENST00000602258.1:n.2504T>C
ENST00000614245.1:c.*53T>C ENSP00000480219.1:n.*53T>C
NM_015711.3:c.*53T>C NP_056526.3:n.*53T>C
XM_005258833.3:c.*53T>C XP_005258890.1:n.*53T>C
XM_006723180.2:c.*53T>C XP_006723243.1:n.*53T>C
XM_011526882.1:c.*53T>C XP_011525184.1:n.*53T>C
XM_011526883.1:c.*53T>C XP_011525185.1:n.*53T>C
XM_005258833.4:c.*53T>C XP_005258890.1:n.*53T>C
XM_006723180.3:c.*53T>C XP_006723243.1:n.*53T>C
XM_011526882.2:c.*53T>C XP_011525184.1:n.*53T>C
XM_011526883.2:c.*53T>C XP_011525185.1:n.*53T>C
NM_001394372.1:c.*53T>C MANE Select NP_001381301.1:n.*53T>C
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