Canonical Allele Identifier: CA2584493790

Gene: TBXA2R

Linked Data

• gnomAD v4: 19-3595578-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595578C>A , CM000681.2:g.3595578C>A	GRCh38
NC_000019.9:g.3595576C>A , CM000681.1:g.3595576C>A	GRCh37
NC_000019.8:g.3546576C>A	NCBI36
NG_013363.1:g.16256G>T , LRG_578:g.16256G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.*110G>T MANE Select	ENSP00000364336.4:n.*110G>T
ENST00000375190.8:c.*110G>T	ENSP00000364336.3:n.*110G>T
ENST00000411851.3:c.983+159G>T	ENSP00000393333.2:n.983+159G>T
ENST00000589966.1:c.753G>T	ENSP00000468145.1:p.Val251=
NM_001060.5:c.*110G>T , LRG_578t1:c.*110G>T	NP_001051.1:n.*110G>T
NM_201636.2:c.983+159G>T	NP_963998.2:n.983+159G>T
NM_001060.6:c.*110G>T MANE Select	NP_001051.1:n.*110G>T
NM_201636.3:c.983+159G>T	NP_963998.2:n.983+159G>T