Canonical Allele Identifier: CA406612167
Gene: BICRA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47680340G>C , CM000681.2:g.47680340G>C GRCh38
NC_000019.9:g.48183597G>C , CM000681.1:g.48183597G>C GRCh37
NC_000019.8:g.52875409G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000594866.3:c.1170G>C MANE Select ENSP00000469738.2:p.Gln390His
ENST00000614245.2:c.444G>C ENSP00000480219.2:p.Gln148His
ENST00000396720.7:c.1170G>C ENSP00000379946.2:p.Gln390His
ENST00000614245.1:c.1014G>C ENSP00000480219.1:p.Gln338His
NM_015711.3:c.1170G>C NP_056526.3:p.Gln390His
XM_005258833.3:c.1170G>C XP_005258890.1:p.Gln390His
XM_006723180.2:c.1170G>C XP_006723243.1:p.Gln390His
XM_011526882.1:c.1032G>C XP_011525184.1:p.Gln344His
XM_011526883.1:c.1170G>C XP_011525185.1:p.Gln390His
XM_005258833.4:c.1170G>C XP_005258890.1:p.Gln390His
XM_006723180.3:c.1170G>C XP_006723243.1:p.Gln390His
XM_011526882.2:c.1032G>C XP_011525184.1:p.Gln344His
XM_011526883.2:c.1170G>C XP_011525185.1:p.Gln390His
NM_001394372.1:c.1170G>C MANE Select NP_001381301.1:p.Gln390His