Canonical Allele Identifier: CA2539280

Gene: BTLA

Linked Data

• dbSNP Id: rs9288952
• ExAC: 3:112185025 G / A
• gnomAD v2: 3-112185025-G-A
• gnomAD v3: 3-112466178-G-A
• gnomAD v4: 3-112466178-G-A
• MyVariant Identifiers: chr3:g.112185025G>A (hg19) ; chr3:g.112466178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.112466178G>A , CM000665.2:g.112466178G>A	GRCh38
NC_000003.11:g.112185025G>A , CM000665.1:g.112185025G>A	GRCh37
NC_000003.10:g.113667715G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000334529.10:c.800C>T MANE Select	ENSP00000333919.5:p.Pro267Leu
ENST00000334529.9:c.800C>T	ENSP00000333919.5:p.Pro267Leu
ENST00000383680.4:c.656C>T	ENSP00000373178.4:p.Pro219Leu
ENST00000474965.1:n.304C>T
NM_001085357.1:c.656C>T	NP_001078826.1:p.Pro219Leu
NM_181780.3:c.800C>T	NP_861445.3:p.Pro267Leu
XM_011512446.1:c.818C>T	XP_011510748.1:p.Pro273Leu
XM_011512447.1:c.818C>T	XP_011510749.1:p.Pro273Leu
XM_011512447.3:c.818C>T	XP_011510749.1:p.Pro273Leu
XM_017005748.2:c.800C>T	XP_016861237.1:p.Pro267Leu
NM_181780.4:c.800C>T MANE Select	NP_861445.4:p.Pro267Leu
NM_001085357.2:c.656C>T	NP_001078826.1:p.Pro219Leu