Canonical Allele Identifier: CA406612164
Gene: BICRA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47680339A>T , CM000681.2:g.47680339A>T GRCh38
NC_000019.9:g.48183596A>T , CM000681.1:g.48183596A>T GRCh37
NC_000019.8:g.52875408A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000594866.3:c.1169A>T MANE Select ENSP00000469738.2:p.Gln390Leu
ENST00000614245.2:c.443A>T ENSP00000480219.2:p.Gln148Leu
ENST00000396720.7:c.1169A>T ENSP00000379946.2:p.Gln390Leu
ENST00000614245.1:c.1013A>T ENSP00000480219.1:p.Gln338Leu
NM_015711.3:c.1169A>T NP_056526.3:p.Gln390Leu
XM_005258833.3:c.1169A>T XP_005258890.1:p.Gln390Leu
XM_006723180.2:c.1169A>T XP_006723243.1:p.Gln390Leu
XM_011526882.1:c.1031A>T XP_011525184.1:p.Gln344Leu
XM_011526883.1:c.1169A>T XP_011525185.1:p.Gln390Leu
XM_005258833.4:c.1169A>T XP_005258890.1:p.Gln390Leu
XM_006723180.3:c.1169A>T XP_006723243.1:p.Gln390Leu
XM_011526882.2:c.1031A>T XP_011525184.1:p.Gln344Leu
XM_011526883.2:c.1169A>T XP_011525185.1:p.Gln390Leu
NM_001394372.1:c.1169A>T MANE Select NP_001381301.1:p.Gln390Leu