Canonical Allele Identifier: CA353800929
Gene: BTLA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.112466119C>G , CM000665.2:g.112466119C>G GRCh38
NC_000003.11:g.112184966C>G , CM000665.1:g.112184966C>G GRCh37
NC_000003.10:g.113667656C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334529.10:c.859G>C MANE Select ENSP00000333919.5:p.Val287Leu
ENST00000334529.9:c.859G>C ENSP00000333919.5:p.Val287Leu
ENST00000383680.4:c.715G>C ENSP00000373178.4:p.Val239Leu
ENST00000474965.1:n.363G>C
NM_001085357.1:c.715G>C NP_001078826.1:p.Val239Leu
NM_181780.3:c.859G>C NP_861445.3:p.Val287Leu
XM_011512446.1:c.877G>C XP_011510748.1:p.Val293Leu
XM_011512447.1:c.877G>C XP_011510749.1:p.Val293Leu
XM_011512447.3:c.877G>C XP_011510749.1:p.Val293Leu
XM_017005748.2:c.859G>C XP_016861237.1:p.Val287Leu
NM_181780.4:c.859G>C MANE Select NP_861445.4:p.Val287Leu
NM_001085357.2:c.715G>C NP_001078826.1:p.Val239Leu