Canonical Allele Identifier: CA403330656
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595813-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595813G>T , CM000681.2:g.3595813G>T GRCh38
NC_000019.9:g.3595811G>T , CM000681.1:g.3595811G>T GRCh37
NC_000019.8:g.3546811G>T NCBI36
NG_013363.1:g.16021C>A , LRG_578:g.16021C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.907C>A MANE Select ENSP00000364336.4:p.Leu303Met
ENST00000375190.8:c.907C>A ENSP00000364336.3:p.Leu303Met
ENST00000411851.3:c.907C>A ENSP00000393333.2:p.Leu303Met
ENST00000589966.1:c.518C>A ENSP00000468145.1:p.Pro173His
NM_001060.5:c.907C>A , LRG_578t1:c.907C>A NP_001051.1:p.Leu303Met
NM_201636.2:c.907C>A NP_963998.2:p.Leu303Met
XM_011528214.1:c.907C>A XP_011526516.1:p.Leu303Met
XM_011528214.2:c.907C>A XP_011526516.1:p.Leu303Met
NM_001060.6:c.907C>A MANE Select NP_001051.1:p.Leu303Met
NM_201636.3:c.907C>A NP_963998.2:p.Leu303Met