Canonical Allele Identifier: CA353801075

Gene: BTLA

Linked Data

• dbSNP Id: rs1218247432
• gnomAD v2: 3-112185001-A-G
• gnomAD v3: 3-112466154-A-G
• gnomAD v4: 3-112466154-A-G
• MyVariant Identifiers: chr3:g.112185001A>G (hg19) ; chr3:g.112466154A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.112466154A>G , CM000665.2:g.112466154A>G	GRCh38
NC_000003.11:g.112185001A>G , CM000665.1:g.112185001A>G	GRCh37
NC_000003.10:g.113667691A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334529.10:c.824T>C MANE Select	ENSP00000333919.5:p.Val275Ala
ENST00000334529.9:c.824T>C	ENSP00000333919.5:p.Val275Ala
ENST00000383680.4:c.680T>C	ENSP00000373178.4:p.Val227Ala
ENST00000474965.1:n.328T>C
NM_001085357.1:c.680T>C	NP_001078826.1:p.Val227Ala
NM_181780.3:c.824T>C	NP_861445.3:p.Val275Ala
XM_011512446.1:c.842T>C	XP_011510748.1:p.Val281Ala
XM_011512447.1:c.842T>C	XP_011510749.1:p.Val281Ala
XM_011512447.3:c.842T>C	XP_011510749.1:p.Val281Ala
XM_017005748.2:c.824T>C	XP_016861237.1:p.Val275Ala
NM_181780.4:c.824T>C MANE Select	NP_861445.4:p.Val275Ala
NM_001085357.2:c.680T>C	NP_001078826.1:p.Val227Ala