Canonical Allele Identifier: CA403330895
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595846-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595846T>C , CM000681.2:g.3595846T>C GRCh38
NC_000019.9:g.3595844T>C , CM000681.1:g.3595844T>C GRCh37
NC_000019.8:g.3546844T>C NCBI36
NG_013363.1:g.15988A>G , LRG_578:g.15988A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.874A>G MANE Select ENSP00000364336.4:p.Ile292Val
ENST00000375190.8:c.874A>G ENSP00000364336.3:p.Ile292Val
ENST00000411851.3:c.874A>G ENSP00000393333.2:p.Ile292Val
ENST00000589966.1:c.485A>G ENSP00000468145.1:p.His162Arg
NM_001060.5:c.874A>G , LRG_578t1:c.874A>G NP_001051.1:p.Ile292Val
NM_201636.2:c.874A>G NP_963998.2:p.Ile292Val
XM_011528214.1:c.874A>G XP_011526516.1:p.Ile292Val
XM_011528214.2:c.874A>G XP_011526516.1:p.Ile292Val
NM_001060.6:c.874A>G MANE Select NP_001051.1:p.Ile292Val
NM_201636.3:c.874A>G NP_963998.2:p.Ile292Val