Canonical Allele Identifier: CA304367910
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs867934335
gnomAD v2: 19-3595829-C-T
gnomAD v4: 19-3595831-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595831C>T , CM000681.2:g.3595831C>T GRCh38
NC_000019.9:g.3595829C>T , CM000681.1:g.3595829C>T GRCh37
NC_000019.8:g.3546829C>T NCBI36
NG_013363.1:g.16003G>A , LRG_578:g.16003G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.889G>A MANE Select ENSP00000364336.4:p.Ala297Thr
ENST00000375190.8:c.889G>A ENSP00000364336.3:p.Ala297Thr
ENST00000411851.3:c.889G>A ENSP00000393333.2:p.Ala297Thr
ENST00000589966.1:c.500G>A ENSP00000468145.1:p.Gly167Asp
NM_001060.5:c.889G>A , LRG_578t1:c.889G>A NP_001051.1:p.Ala297Thr
NM_201636.2:c.889G>A NP_963998.2:p.Ala297Thr
XM_011528214.1:c.889G>A XP_011526516.1:p.Ala297Thr
XM_011528214.2:c.889G>A XP_011526516.1:p.Ala297Thr
NM_001060.6:c.889G>A MANE Select NP_001051.1:p.Ala297Thr
NM_201636.3:c.889G>A NP_963998.2:p.Ala297Thr