Canonical Allele Identifier: CA9080749
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs777236574
gnomAD v2: 19-3595839-G-A
gnomAD v3: 19-3595841-G-A
gnomAD v4: 19-3595841-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595841G>A , CM000681.2:g.3595841G>A GRCh38
NC_000019.9:g.3595839G>A , CM000681.1:g.3595839G>A GRCh37
NC_000019.8:g.3546839G>A NCBI36
NG_013363.1:g.15993C>T , LRG_578:g.15993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.879C>T MANE Select ENSP00000364336.4:p.Tyr293=
ENST00000375190.8:c.879C>T ENSP00000364336.3:p.Tyr293=
ENST00000411851.3:c.879C>T ENSP00000393333.2:p.Tyr293=
ENST00000589966.1:c.490C>T ENSP00000468145.1:p.Leu164Phe
NM_001060.5:c.879C>T , LRG_578t1:c.879C>T NP_001051.1:p.Tyr293=
NM_201636.2:c.879C>T NP_963998.2:p.Tyr293=
XM_011528214.1:c.879C>T XP_011526516.1:p.Tyr293=
XM_011528214.2:c.879C>T XP_011526516.1:p.Tyr293=
NM_001060.6:c.879C>T MANE Select NP_001051.1:p.Tyr293=
NM_201636.3:c.879C>T NP_963998.2:p.Tyr293=