Canonical Allele Identifier: CA2539346
Gene: BTLA HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.112471290G>T
GRCh37 chr3:g.112190137G>T
Revel Score:
ENST00000334529 (MANE Select) 0.033
gnomAD v2:
3:112190137 G / T
gnomAD v3:
3:112471290 G / T
gnomAD v4:
chr3-112471290-G-T
Joint Max Group AF 0.99847344 (NFE)
Genomes Max Group AF 0.99365744 (NFE)
Exomes Max Group AF 0.99842951 (NFE)
dbSNP:
2931761
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.112471290G>T , CM000665.2:g.112471290G>T GRCh38
NC_000003.11:g.112190137G>T , CM000665.1:g.112190137G>T GRCh37
NC_000003.10:g.113672827G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334529.10:c.469C>A MANE Select ENSP00000333919.5:p.Arg157Ser
ENST00000334529.9:c.469C>A ENSP00000333919.5:p.Arg157Ser
ENST00000383680.4:c.404-1486C>A ENSP00000373178.4:n.404-1486C>A
NM_001085357.1:c.404-1486C>A NP_001078826.1:n.404-1486C>A
XM_011512446.1:c.487C>A XP_011510748.1:p.Arg163Ser
XM_011512447.1:c.487C>A XP_011510749.1:p.Arg163Ser
XM_011512447.3:c.487C>A XP_011510749.1:p.Arg163Ser
XM_017005748.2:c.469C>A XP_016861237.1:p.Arg157Ser
NM_181780.4:c.469C>A MANE Select NP_861445.4:p.Arg157Ser
NM_001085357.2:c.404-1486C>A NP_001078826.1:n.404-1486C>A
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