Canonical Allele Identifier: CA2539265

Gene: BTLA

Linked Data

• dbSNP Id: rs2171513
• ExAC: 3:112184927 A / G
• gnomAD v2: 3-112184927-A-G
• gnomAD v3: 3-112466080-A-G
• gnomAD v4: 3-112466080-A-G
• MyVariant Identifiers: chr3:g.112184927A>G (hg19) ; chr3:g.112466080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.112466080A>G , CM000665.2:g.112466080A>G	GRCh38
NC_000003.11:g.112184927A>G , CM000665.1:g.112184927A>G	GRCh37
NC_000003.10:g.113667617A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334529.10:c.*28T>C MANE Select	ENSP00000333919.5:n.*28T>C
ENST00000334529.9:c.*28T>C	ENSP00000333919.5:n.*28T>C
ENST00000474965.1:n.402T>C
NM_001085357.1:c.*28T>C	NP_001078826.1:n.*28T>C
NM_181780.3:c.*28T>C	NP_861445.3:n.*28T>C
XM_011512446.1:c.*28T>C	XP_011510748.1:n.*28T>C
XM_011512447.1:c.*28T>C	XP_011510749.1:n.*28T>C
XM_011512447.3:c.*28T>C	XP_011510749.1:n.*28T>C
XM_017005748.2:c.*28T>C	XP_016861237.1:n.*28T>C
NM_181780.4:c.*28T>C MANE Select	NP_861445.4:n.*28T>C
NM_001085357.2:c.*28T>C	NP_001078826.1:n.*28T>C