Canonical Allele Identifier: CA8292241
Gene: TAX1BP3 HGNC NCBI
P2RX5-TAX1BP3 HGNC NCBI

Linked Data

dbSNP Id: rs117575113
gnomAD v2: 17-3568067-C-T
gnomAD v3: 17-3664773-C-T
gnomAD v4: 17-3664773-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3664773C>T , CM000679.2:g.3664773C>T GRCh38
NC_000017.10:g.3568067C>T , CM000679.1:g.3568067C>T GRCh37
NC_000017.9:g.3514816C>T NCBI36
NG_012489.1:g.33306C>T
NG_053154.1:g.8907G>A
NG_012489.2:g.33306C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225525.4:c.65G>A (TAX1BP3) MANE Select ENSP00000225525.3:p.Arg22His
ENST00000225525.3:c.65G>A (TAX1BP3) ENSP00000225525.3:p.Arg22His
ENST00000550383.1:c.*3422G>A (P2RX5-TAX1BP3) ENSP00000455681.1:n.*3422G>A
ENST00000611779.4:c.65G>A (TAX1BP3) ENSP00000484776.1:p.Arg22His
NM_001204698.1:c.65G>A (TAX1BP3) NP_001191627.1:p.Arg22His
NM_014604.3:c.65G>A (TAX1BP3) NP_055419.1:p.Arg22His
NR_037928.1:n.5120G>A (P2RX5-TAX1BP3)
NM_014604.4:c.65G>A (TAX1BP3) MANE Select NP_055419.1:p.Arg22His
NM_001204698.2:c.65G>A (TAX1BP3) NP_001191627.1:p.Arg22His