Canonical Allele Identifier: CA497467395

Gene: TAX1BP3 P2RX5-TAX1BP3

Linked Data

• dbSNP Id: rs1476335349
• gnomAD v2: 17-3568072-C-T
• gnomAD v4: 17-3664778-C-T
• MyVariant Identifiers: chr17:g.3568072C>T (hg19) ; chr17:g.3664778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3664778C>T , CM000679.2:g.3664778C>T	GRCh38
NC_000017.10:g.3568072C>T , CM000679.1:g.3568072C>T	GRCh37
NC_000017.9:g.3514821C>T	NCBI36
NG_012489.1:g.33311C>T
NG_053154.1:g.8902G>A
NG_012489.2:g.33311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225525.4:c.60G>A (TAX1BP3) MANE Select	ENSP00000225525.3:p.Lys20=
ENST00000225525.3:c.60G>A (TAX1BP3)	ENSP00000225525.3:p.Lys20=
ENST00000550383.1:c.*3417G>A (P2RX5-TAX1BP3)	ENSP00000455681.1:n.*3417G>A
ENST00000611779.4:c.60G>A (TAX1BP3)	ENSP00000484776.1:p.Lys20=
NM_001204698.1:c.60G>A (TAX1BP3)	NP_001191627.1:p.Lys20=
NM_014604.3:c.60G>A (TAX1BP3)	NP_055419.1:p.Lys20=
NR_037928.1:n.5115G>A (P2RX5-TAX1BP3)
NM_014604.4:c.60G>A (TAX1BP3) MANE Select	NP_055419.1:p.Lys20=
NM_001204698.2:c.60G>A (TAX1BP3)	NP_001191627.1:p.Lys20=