Canonical Allele Identifier: CA406612836
Community Standard Title: NM_001394372.1(BICRA):c.1342A>C (p.Ser448Arg)
Gene: BICRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47680512A>C , CM000681.2:g.47680512A>C GRCh38
NC_000019.9:g.48183769A>C , CM000681.1:g.48183769A>C GRCh37
NC_000019.8:g.52875581A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394372.1:c.1342A>C MANE Select NP_001381301.1:p.Ser448Arg
ENST00000594866.3:c.1342A>C MANE Select ENSP00000469738.2:p.Ser448Arg
NM_015711.3:c.1342A>C NP_056526.3:p.Ser448Arg
ENST00000396720.7:c.1342A>C ENSP00000379946.2:p.Ser448Arg
ENST00000614245.1:c.1186A>C ENSP00000480219.1:p.Ser396Arg
ENST00000614245.2:c.616A>C ENSP00000480219.2:p.Ser206Arg
XM_005258833.3:c.1342A>C XP_005258890.1:p.Ser448Arg
XM_005258833.4:c.1342A>C XP_005258890.1:p.Ser448Arg
XM_006723180.2:c.1342A>C XP_006723243.1:p.Ser448Arg
XM_006723180.3:c.1342A>C XP_006723243.1:p.Ser448Arg
XM_011526882.1:c.1204A>C XP_011525184.1:p.Ser402Arg
XM_011526882.2:c.1204A>C XP_011525184.1:p.Ser402Arg
XM_011526883.1:c.1342A>C XP_011525185.1:p.Ser448Arg
XM_011526883.2:c.1342A>C XP_011525185.1:p.Ser448Arg