Canonical Allele Identifier: CA403330259
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595755-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595755C>A , CM000681.2:g.3595755C>A GRCh38
NC_000019.9:g.3595753C>A , CM000681.1:g.3595753C>A GRCh37
NC_000019.8:g.3546753C>A NCBI36
NG_013363.1:g.16079G>T , LRG_578:g.16079G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.965G>T MANE Select ENSP00000364336.4:p.Arg322Leu
ENST00000375190.8:c.965G>T ENSP00000364336.3:p.Arg322Leu
ENST00000411851.3:c.965G>T ENSP00000393333.2:p.Arg322Leu
ENST00000589966.1:c.576G>T ENSP00000468145.1:p.Ser192=
NM_001060.5:c.965G>T , LRG_578t1:c.965G>T NP_001051.1:p.Arg322Leu
NM_201636.2:c.965G>T NP_963998.2:p.Arg322Leu
XM_011528214.1:c.965G>T XP_011526516.1:p.Arg322Leu
XM_011528214.2:c.965G>T XP_011526516.1:p.Arg322Leu
NM_001060.6:c.965G>T MANE Select NP_001051.1:p.Arg322Leu
NM_201636.3:c.965G>T NP_963998.2:p.Arg322Leu