Canonical Allele Identifier: CA2584493817
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595700-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595700G>T , CM000681.2:g.3595700G>T GRCh38
NC_000019.9:g.3595698G>T , CM000681.1:g.3595698G>T GRCh37
NC_000019.8:g.3546698G>T NCBI36
NG_013363.1:g.16134C>A , LRG_578:g.16134C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.1020C>A MANE Select ENSP00000364336.4:p.Ser340=
ENST00000375190.8:c.1020C>A ENSP00000364336.3:p.Ser340=
ENST00000411851.3:c.983+37C>A ENSP00000393333.2:n.983+37C>A
ENST00000589966.1:c.631C>A ENSP00000468145.1:p.Arg211=
NM_001060.5:c.1020C>A , LRG_578t1:c.1020C>A NP_001051.1:p.Ser340=
NM_201636.2:c.983+37C>A NP_963998.2:n.983+37C>A
XM_011528214.1:c.1020C>A XP_011526516.1:p.Ser340=
XM_011528214.2:c.1020C>A XP_011526516.1:p.Ser340=
NM_001060.6:c.1020C>A MANE Select NP_001051.1:p.Ser340=
NM_201636.3:c.983+37C>A NP_963998.2:n.983+37C>A