Canonical Allele Identifier: CA406612147
Gene: BICRA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47680330T>G , CM000681.2:g.47680330T>G GRCh38
NC_000019.9:g.48183587T>G , CM000681.1:g.48183587T>G GRCh37
NC_000019.8:g.52875399T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000594866.3:c.1160T>G MANE Select ENSP00000469738.2:p.Leu387Arg
ENST00000614245.2:c.434T>G ENSP00000480219.2:p.Leu145Arg
ENST00000396720.7:c.1160T>G ENSP00000379946.2:p.Leu387Arg
ENST00000614245.1:c.1004T>G ENSP00000480219.1:p.Leu335Arg
NM_015711.3:c.1160T>G NP_056526.3:p.Leu387Arg
XM_005258833.3:c.1160T>G XP_005258890.1:p.Leu387Arg
XM_006723180.2:c.1160T>G XP_006723243.1:p.Leu387Arg
XM_011526882.1:c.1022T>G XP_011525184.1:p.Leu341Arg
XM_011526883.1:c.1160T>G XP_011525185.1:p.Leu387Arg
XM_005258833.4:c.1160T>G XP_005258890.1:p.Leu387Arg
XM_006723180.3:c.1160T>G XP_006723243.1:p.Leu387Arg
XM_011526882.2:c.1022T>G XP_011525184.1:p.Leu341Arg
XM_011526883.2:c.1160T>G XP_011525185.1:p.Leu387Arg
NM_001394372.1:c.1160T>G MANE Select NP_001381301.1:p.Leu387Arg