Canonical Allele Identifier: CA2539275

Gene: BTLA

Linked Data

• dbSNP Id: rs761121604
• ExAC: 3:112184970 T / C
• gnomAD v2: 3-112184970-T-C
• gnomAD v4: 3-112466123-T-C
• MyVariant Identifiers: chr3:g.112184970T>C (hg19) ; chr3:g.112466123T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.112466123T>C , CM000665.2:g.112466123T>C	GRCh38
NC_000003.11:g.112184970T>C , CM000665.1:g.112184970T>C	GRCh37
NC_000003.10:g.113667660T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334529.10:c.855A>G MANE Select	ENSP00000333919.5:p.Ile285Met
ENST00000334529.9:c.855A>G	ENSP00000333919.5:p.Ile285Met
ENST00000383680.4:c.711A>G	ENSP00000373178.4:p.Ile237Met
ENST00000474965.1:n.359A>G
NM_001085357.1:c.711A>G	NP_001078826.1:p.Ile237Met
NM_181780.3:c.855A>G	NP_861445.3:p.Ile285Met
XM_011512446.1:c.873A>G	XP_011510748.1:p.Ile291Met
XM_011512447.1:c.873A>G	XP_011510749.1:p.Ile291Met
XM_011512447.3:c.873A>G	XP_011510749.1:p.Ile291Met
XM_017005748.2:c.855A>G	XP_016861237.1:p.Ile285Met
NM_181780.4:c.855A>G MANE Select	NP_861445.4:p.Ile285Met
NM_001085357.2:c.711A>G	NP_001078826.1:p.Ile237Met