Canonical Allele Identifier: CA403331274
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595913-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595913C>A , CM000681.2:g.3595913C>A GRCh38
NC_000019.9:g.3595911C>A , CM000681.1:g.3595911C>A GRCh37
NC_000019.8:g.3546911C>A NCBI36
NG_013363.1:g.15921G>T , LRG_578:g.15921G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.807G>T MANE Select ENSP00000364336.4:p.Val269=
ENST00000375190.8:c.807G>T ENSP00000364336.3:p.Val269=
ENST00000411851.3:c.807G>T ENSP00000393333.2:p.Val269=
ENST00000589966.1:c.418G>T ENSP00000468145.1:p.Ala140Ser
NM_001060.5:c.807G>T , LRG_578t1:c.807G>T NP_001051.1:p.Val269=
NM_201636.2:c.807G>T NP_963998.2:p.Val269=
XM_011528214.1:c.807G>T XP_011526516.1:p.Val269=
XM_011528214.2:c.807G>T XP_011526516.1:p.Val269=
NM_001060.6:c.807G>T MANE Select NP_001051.1:p.Val269=
NM_201636.3:c.807G>T NP_963998.2:p.Val269=