Canonical Allele Identifier: CA353800971

Gene: BTLA

Linked Data

• gnomAD v4: 3-112466130-G-A
• MyVariant Identifiers: chr3:g.112184977G>A (hg19) ; chr3:g.112466130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.112466130G>A , CM000665.2:g.112466130G>A	GRCh38
NC_000003.11:g.112184977G>A , CM000665.1:g.112184977G>A	GRCh37
NC_000003.10:g.113667667G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334529.10:c.848C>T MANE Select	ENSP00000333919.5:p.Ala283Val
ENST00000334529.9:c.848C>T	ENSP00000333919.5:p.Ala283Val
ENST00000383680.4:c.704C>T	ENSP00000373178.4:p.Ala235Val
ENST00000474965.1:n.352C>T
NM_001085357.1:c.704C>T	NP_001078826.1:p.Ala235Val
NM_181780.3:c.848C>T	NP_861445.3:p.Ala283Val
XM_011512446.1:c.866C>T	XP_011510748.1:p.Ala289Val
XM_011512447.1:c.866C>T	XP_011510749.1:p.Ala289Val
XM_011512447.3:c.866C>T	XP_011510749.1:p.Ala289Val
XM_017005748.2:c.848C>T	XP_016861237.1:p.Ala283Val
NM_181780.4:c.848C>T MANE Select	NP_861445.4:p.Ala283Val
NM_001085357.2:c.704C>T	NP_001078826.1:p.Ala235Val