Canonical Allele Identifier: CA403329206
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595618-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595618C>T , CM000681.2:g.3595618C>T GRCh38
NC_000019.9:g.3595616C>T , CM000681.1:g.3595616C>T GRCh37
NC_000019.8:g.3546616C>T NCBI36
NG_013363.1:g.16216G>A , LRG_578:g.16216G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*70G>A MANE Select ENSP00000364336.4:n.*70G>A
ENST00000375190.8:c.*70G>A ENSP00000364336.3:n.*70G>A
ENST00000411851.3:c.983+119G>A ENSP00000393333.2:n.983+119G>A
ENST00000589966.1:c.713G>A ENSP00000468145.1:p.Cys238Tyr
NM_001060.5:c.*70G>A , LRG_578t1:c.*70G>A NP_001051.1:n.*70G>A
NM_201636.2:c.983+119G>A NP_963998.2:n.983+119G>A
XM_011528214.1:c.*70G>A XP_011526516.1:n.*70G>A
XM_011528214.2:c.*70G>A XP_011526516.1:n.*70G>A
NM_001060.6:c.*70G>A MANE Select NP_001051.1:n.*70G>A
NM_201636.3:c.983+119G>A NP_963998.2:n.983+119G>A