Canonical Allele Identifier: CA353800918

Gene: BTLA

Linked Data

• dbSNP Id: rs1483367010
• gnomAD v4: 3-112466115-C-A
• MyVariant Identifiers: chr3:g.112184962C>A (hg19) ; chr3:g.112466115C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.112466115C>A , CM000665.2:g.112466115C>A	GRCh38
NC_000003.11:g.112184962C>A , CM000665.1:g.112184962C>A	GRCh37
NC_000003.10:g.113667652C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334529.10:c.863G>T MANE Select	ENSP00000333919.5:p.Arg288Met
ENST00000334529.9:c.863G>T	ENSP00000333919.5:p.Arg288Met
ENST00000383680.4:c.719G>T	ENSP00000373178.4:p.Arg240Met
ENST00000474965.1:n.367G>T
NM_001085357.1:c.719G>T	NP_001078826.1:p.Arg240Met
NM_181780.3:c.863G>T	NP_861445.3:p.Arg288Met
XM_011512446.1:c.881G>T	XP_011510748.1:p.Arg294Met
XM_011512447.1:c.881G>T	XP_011510749.1:p.Arg294Met
XM_011512447.3:c.881G>T	XP_011510749.1:p.Arg294Met
XM_017005748.2:c.863G>T	XP_016861237.1:p.Arg288Met
NM_181780.4:c.863G>T MANE Select	NP_861445.4:p.Arg288Met
NM_001085357.2:c.719G>T	NP_001078826.1:p.Arg240Met