Canonical Allele Identifier: CA353801085
Gene: BTLA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.112466155C>T , CM000665.2:g.112466155C>T GRCh38
NC_000003.11:g.112185002C>T , CM000665.1:g.112185002C>T GRCh37
NC_000003.10:g.113667692C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334529.10:c.823G>A MANE Select ENSP00000333919.5:p.Val275Ile
ENST00000334529.9:c.823G>A ENSP00000333919.5:p.Val275Ile
ENST00000383680.4:c.679G>A ENSP00000373178.4:p.Val227Ile
ENST00000474965.1:n.327G>A
NM_001085357.1:c.679G>A NP_001078826.1:p.Val227Ile
NM_181780.3:c.823G>A NP_861445.3:p.Val275Ile
XM_011512446.1:c.841G>A XP_011510748.1:p.Val281Ile
XM_011512447.1:c.841G>A XP_011510749.1:p.Val281Ile
XM_011512447.3:c.841G>A XP_011510749.1:p.Val281Ile
XM_017005748.2:c.823G>A XP_016861237.1:p.Val275Ile
NM_181780.4:c.823G>A MANE Select NP_861445.4:p.Val275Ile
NM_001085357.2:c.679G>A NP_001078826.1:p.Val227Ile