Canonical Allele Identifier: CA397696100
Community Standard Title: NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)
Gene: TAX1BP3 HGNC NCBI
P2RX5-TAX1BP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3664199A>G , CM000679.2:g.3664199A>G GRCh38
NC_000017.10:g.3567493A>G , CM000679.1:g.3567493A>G GRCh37
NC_000017.9:g.3514242A>G NCBI36
NG_012489.1:g.32732A>G
NG_053154.1:g.9481T>C
NG_012489.2:g.32732A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014604.4:c.233T>C (TAX1BP3) MANE Select NP_055419.1:p.Met78Thr
ENST00000225525.4:c.233T>C (TAX1BP3) MANE Select ENSP00000225525.3:p.Met78Thr
NM_001204698.1:c.160-314T>C (TAX1BP3) NP_001191627.1:n.160-314T>C
NM_001204698.2:c.160-314T>C (TAX1BP3) NP_001191627.1:n.160-314T>C
NM_014604.3:c.233T>C (TAX1BP3) NP_055419.1:p.Met78Thr
NR_037928.1:n.5288T>C (P2RX5-TAX1BP3)
ENST00000225525.3:c.233T>C (TAX1BP3) ENSP00000225525.3:p.Met78Thr
ENST00000550383.1:c.*3590T>C (P2RX5-TAX1BP3) ENSP00000455681.1:n.*3590T>C
ENST00000611779.4:c.160-314T>C (TAX1BP3) ENSP00000484776.1:n.160-314T>C