Canonical Allele Identifier: CA406622082
Community Standard Title: NM_001394372.1(BICRA):c.3248+1G>A
Gene: BICRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47696513G>A , CM000681.2:g.47696513G>A GRCh38
NC_000019.9:g.48199770G>A , CM000681.1:g.48199770G>A GRCh37
NC_000019.8:g.52891582G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394372.1:c.3248+1G>A MANE Select NP_001381301.1:n.3248+1G>A
ENST00000594866.3:c.3248+1G>A MANE Select ENSP00000469738.2:n.3248+1G>A
NM_015711.3:c.3248+1G>A NP_056526.3:n.3248+1G>A
ENST00000396720.7:c.3248+1G>A ENSP00000379946.2:n.3248+1G>A
ENST00000614245.1:c.3092+1G>A ENSP00000480219.1:n.3092+1G>A
ENST00000614245.2:c.2522+1G>A ENSP00000480219.2:n.2522+1G>A
XM_005258833.3:c.3248+1G>A XP_005258890.1:n.3248+1G>A
XM_005258833.4:c.3248+1G>A XP_005258890.1:n.3248+1G>A
XM_006723180.2:c.2168+1G>A XP_006723243.1:n.2168+1G>A
XM_006723180.3:c.2168+1G>A XP_006723243.1:n.2168+1G>A
XM_011526882.1:c.3110+1G>A XP_011525184.1:n.3110+1G>A
XM_011526882.2:c.3110+1G>A XP_011525184.1:n.3110+1G>A
XM_011526883.1:c.3071+1G>A XP_011525185.1:n.3071+1G>A
XM_011526883.2:c.3071+1G>A XP_011525185.1:n.3071+1G>A