Canonical Allele Identifier: CA403330467
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1390964033
gnomAD v2: 19-3595780-C-T
gnomAD v4: 19-3595782-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595782C>T , CM000681.2:g.3595782C>T GRCh38
NC_000019.9:g.3595780C>T , CM000681.1:g.3595780C>T GRCh37
NC_000019.8:g.3546780C>T NCBI36
NG_013363.1:g.16052G>A , LRG_578:g.16052G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.938G>A MANE Select ENSP00000364336.4:p.Arg313His
ENST00000375190.8:c.938G>A ENSP00000364336.3:p.Arg313His
ENST00000411851.3:c.938G>A ENSP00000393333.2:p.Arg313His
ENST00000589966.1:c.549G>A ENSP00000468145.1:p.Pro183=
NM_001060.5:c.938G>A , LRG_578t1:c.938G>A NP_001051.1:p.Arg313His
NM_201636.2:c.938G>A NP_963998.2:p.Arg313His
XM_011528214.1:c.938G>A XP_011526516.1:p.Arg313His
XM_011528214.2:c.938G>A XP_011526516.1:p.Arg313His
NM_001060.6:c.938G>A MANE Select NP_001051.1:p.Arg313His
NM_201636.3:c.938G>A NP_963998.2:p.Arg313His