Canonical Allele Identifier: CA406612380

Gene: BICRA

Linked Data

• gnomAD v4: 19-47680416-G-A
• MyVariant Identifiers: chr19:g.48183673G>A (hg19) ; chr19:g.47680416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680416G>A , CM000681.2:g.47680416G>A	GRCh38
NC_000019.9:g.48183673G>A , CM000681.1:g.48183673G>A	GRCh37
NC_000019.8:g.52875485G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000594866.3:c.1246G>A MANE Select	ENSP00000469738.2:p.Ala416Thr
ENST00000614245.2:c.520G>A	ENSP00000480219.2:p.Ala174Thr
ENST00000396720.7:c.1246G>A	ENSP00000379946.2:p.Ala416Thr
ENST00000614245.1:c.1090G>A	ENSP00000480219.1:p.Ala364Thr
NM_015711.3:c.1246G>A	NP_056526.3:p.Ala416Thr
XM_005258833.3:c.1246G>A	XP_005258890.1:p.Ala416Thr
XM_006723180.2:c.1246G>A	XP_006723243.1:p.Ala416Thr
XM_011526882.1:c.1108G>A	XP_011525184.1:p.Ala370Thr
XM_011526883.1:c.1246G>A	XP_011525185.1:p.Ala416Thr
XM_005258833.4:c.1246G>A	XP_005258890.1:p.Ala416Thr
XM_006723180.3:c.1246G>A	XP_006723243.1:p.Ala416Thr
XM_011526882.2:c.1108G>A	XP_011525184.1:p.Ala370Thr
XM_011526883.2:c.1246G>A	XP_011525185.1:p.Ala416Thr
NM_001394372.1:c.1246G>A MANE Select	NP_001381301.1:p.Ala416Thr