Canonical Allele Identifier: CA406612400

Gene: BICRA

Linked Data

• dbSNP Id: rs1416148178
• gnomAD v2: 19-48183680-C-T
• gnomAD v4: 19-47680423-C-T
• MyVariant Identifiers: chr19:g.48183680C>T (hg19) ; chr19:g.47680423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680423C>T , CM000681.2:g.47680423C>T	GRCh38
NC_000019.9:g.48183680C>T , CM000681.1:g.48183680C>T	GRCh37
NC_000019.8:g.52875492C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000594866.3:c.1253C>T MANE Select	ENSP00000469738.2:p.Ala418Val
ENST00000614245.2:c.527C>T	ENSP00000480219.2:p.Ala176Val
ENST00000396720.7:c.1253C>T	ENSP00000379946.2:p.Ala418Val
ENST00000614245.1:c.1097C>T	ENSP00000480219.1:p.Ala366Val
NM_015711.3:c.1253C>T	NP_056526.3:p.Ala418Val
XM_005258833.3:c.1253C>T	XP_005258890.1:p.Ala418Val
XM_006723180.2:c.1253C>T	XP_006723243.1:p.Ala418Val
XM_011526882.1:c.1115C>T	XP_011525184.1:p.Ala372Val
XM_011526883.1:c.1253C>T	XP_011525185.1:p.Ala418Val
XM_005258833.4:c.1253C>T	XP_005258890.1:p.Ala418Val
XM_006723180.3:c.1253C>T	XP_006723243.1:p.Ala418Val
XM_011526882.2:c.1115C>T	XP_011525184.1:p.Ala372Val
XM_011526883.2:c.1253C>T	XP_011525185.1:p.Ala418Val
NM_001394372.1:c.1253C>T MANE Select	NP_001381301.1:p.Ala418Val