Canonical Allele Identifier: CA403329485
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs201311763
gnomAD v3: 19-3595677-C-A
gnomAD v4: 19-3595677-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595677C>A , CM000681.2:g.3595677C>A GRCh38
NC_000019.9:g.3595675C>A , CM000681.1:g.3595675C>A GRCh37
NC_000019.8:g.3546675C>A NCBI36
NG_013363.1:g.16157G>T , LRG_578:g.16157G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*11G>T MANE Select ENSP00000364336.4:n.*11G>T
ENST00000375190.8:c.*11G>T ENSP00000364336.3:n.*11G>T
ENST00000411851.3:c.983+60G>T ENSP00000393333.2:n.983+60G>T
ENST00000589966.1:c.654G>T ENSP00000468145.1:p.Gln218His
NM_001060.5:c.*11G>T , LRG_578t1:c.*11G>T NP_001051.1:n.*11G>T
NM_201636.2:c.983+60G>T NP_963998.2:n.983+60G>T
XM_011528214.1:c.*11G>T XP_011526516.1:n.*11G>T
XM_011528214.2:c.*11G>T XP_011526516.1:n.*11G>T
NM_001060.6:c.*11G>T MANE Select NP_001051.1:n.*11G>T
NM_201636.3:c.983+60G>T NP_963998.2:n.983+60G>T