Canonical Allele Identifier: CA403330183
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595748-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595748G>T , CM000681.2:g.3595748G>T GRCh38
NC_000019.9:g.3595746G>T , CM000681.1:g.3595746G>T GRCh37
NC_000019.8:g.3546746G>T NCBI36
NG_013363.1:g.16086C>A , LRG_578:g.16086C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.972C>A MANE Select ENSP00000364336.4:p.Ser324Arg
ENST00000375190.8:c.972C>A ENSP00000364336.3:p.Ser324Arg
ENST00000411851.3:c.972C>A ENSP00000393333.2:p.Ser324Arg
ENST00000589966.1:c.583C>A ENSP00000468145.1:p.His195Asn
NM_001060.5:c.972C>A , LRG_578t1:c.972C>A NP_001051.1:p.Ser324Arg
NM_201636.2:c.972C>A NP_963998.2:p.Ser324Arg
XM_011528214.1:c.972C>A XP_011526516.1:p.Ser324Arg
XM_011528214.2:c.972C>A XP_011526516.1:p.Ser324Arg
NM_001060.6:c.972C>A MANE Select NP_001051.1:p.Ser324Arg
NM_201636.3:c.972C>A NP_963998.2:p.Ser324Arg