Canonical Allele Identifier: CA397696891
Gene: TAX1BP3 HGNC NCBI
P2RX5-TAX1BP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3174343
ClinVar RCV Id: RCV004471707
dbSNP Id: rs1320975974
gnomAD v4: 17-3664792-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3664792C>A , CM000679.2:g.3664792C>A GRCh38
NC_000017.10:g.3568086C>A , CM000679.1:g.3568086C>A GRCh37
NC_000017.9:g.3514835C>A NCBI36
NG_012489.1:g.33325C>A
NG_053154.1:g.8888G>T
NG_012489.2:g.33325C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225525.4:c.46G>T (TAX1BP3) MANE Select ENSP00000225525.3:p.Val16Phe
ENST00000225525.3:c.46G>T (TAX1BP3) ENSP00000225525.3:p.Val16Phe
ENST00000550383.1:c.*3403G>T (P2RX5-TAX1BP3) ENSP00000455681.1:n.*3403G>T
ENST00000611779.4:c.46G>T (TAX1BP3) ENSP00000484776.1:p.Val16Phe
NM_001204698.1:c.46G>T (TAX1BP3) NP_001191627.1:p.Val16Phe
NM_014604.3:c.46G>T (TAX1BP3) NP_055419.1:p.Val16Phe
NR_037928.1:n.5101G>T (P2RX5-TAX1BP3)
NM_014604.4:c.46G>T (TAX1BP3) MANE Select NP_055419.1:p.Val16Phe
NM_001204698.2:c.46G>T (TAX1BP3) NP_001191627.1:p.Val16Phe