Canonical Allele Identifier: CA353800922

Gene: BTLA

Linked Data

• dbSNP Id: rs1483367010
• gnomAD v2: 3-112184962-C-T
• gnomAD v4: 3-112466115-C-T
• MyVariant Identifiers: chr3:g.112184962C>T (hg19) ; chr3:g.112466115C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334529.10:c.863G>A MANE Select	ENSP00000333919.5:p.Arg288Lys
ENST00000334529.9:c.863G>A	ENSP00000333919.5:p.Arg288Lys
ENST00000383680.4:c.719G>A	ENSP00000373178.4:p.Arg240Lys
ENST00000474965.1:n.367G>A
NM_001085357.1:c.719G>A	NP_001078826.1:p.Arg240Lys
NM_181780.3:c.863G>A	NP_861445.3:p.Arg288Lys
XM_011512446.1:c.881G>A	XP_011510748.1:p.Arg294Lys
XM_011512447.1:c.881G>A	XP_011510749.1:p.Arg294Lys
XM_011512447.3:c.881G>A	XP_011510749.1:p.Arg294Lys
XM_017005748.2:c.863G>A	XP_016861237.1:p.Arg288Lys
NM_181780.4:c.863G>A MANE Select	NP_861445.4:p.Arg288Lys
NM_001085357.2:c.719G>A	NP_001078826.1:p.Arg240Lys