Canonical Allele Identifier: CA353801070

Gene: BTLA

Linked Data

• dbSNP Id: rs1576674780
• gnomAD v4: 3-112466152-T-G
• MyVariant Identifiers: chr3:g.112184999T>G (hg19) ; chr3:g.112466152T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.112466152T>G , CM000665.2:g.112466152T>G	GRCh38
NC_000003.11:g.112184999T>G , CM000665.1:g.112184999T>G	GRCh37
NC_000003.10:g.113667689T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334529.10:c.826A>C MANE Select	ENSP00000333919.5:p.Lys276Gln
ENST00000334529.9:c.826A>C	ENSP00000333919.5:p.Lys276Gln
ENST00000383680.4:c.682A>C	ENSP00000373178.4:p.Lys228Gln
ENST00000474965.1:n.330A>C
NM_001085357.1:c.682A>C	NP_001078826.1:p.Lys228Gln
NM_181780.3:c.826A>C	NP_861445.3:p.Lys276Gln
XM_011512446.1:c.844A>C	XP_011510748.1:p.Lys282Gln
XM_011512447.1:c.844A>C	XP_011510749.1:p.Lys282Gln
XM_011512447.3:c.844A>C	XP_011510749.1:p.Lys282Gln
XM_017005748.2:c.826A>C	XP_016861237.1:p.Lys276Gln
NM_181780.4:c.826A>C MANE Select	NP_861445.4:p.Lys276Gln
NM_001085357.2:c.682A>C	NP_001078826.1:p.Lys228Gln