Canonical Allele Identifier: CA403329129
Gene: TBXA2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595595C>G , CM000681.2:g.3595595C>G GRCh38
NC_000019.9:g.3595593C>G , CM000681.1:g.3595593C>G GRCh37
NC_000019.8:g.3546593C>G NCBI36
NG_013363.1:g.16239G>C , LRG_578:g.16239G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*93G>C MANE Select ENSP00000364336.4:n.*93G>C
ENST00000375190.8:c.*93G>C ENSP00000364336.3:n.*93G>C
ENST00000411851.3:c.983+142G>C ENSP00000393333.2:n.983+142G>C
ENST00000589966.1:c.736G>C ENSP00000468145.1:p.Gly246Arg
NM_001060.5:c.*93G>C , LRG_578t1:c.*93G>C NP_001051.1:n.*93G>C
NM_201636.2:c.983+142G>C NP_963998.2:n.983+142G>C
XM_011528214.2:c.*93G>C XP_011526516.1:n.*93G>C
NM_001060.6:c.*93G>C MANE Select NP_001051.1:n.*93G>C
NM_201636.3:c.983+142G>C NP_963998.2:n.983+142G>C