Canonical Allele Identifier: CA403329847
Gene: TBXA2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595712G>C , CM000681.2:g.3595712G>C GRCh38
NC_000019.9:g.3595710G>C , CM000681.1:g.3595710G>C GRCh37
NC_000019.8:g.3546710G>C NCBI36
NG_013363.1:g.16122C>G , LRG_578:g.16122C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.1008C>G MANE Select ENSP00000364336.4:p.Leu336=
ENST00000375190.8:c.1008C>G ENSP00000364336.3:p.Leu336=
ENST00000411851.3:c.983+25C>G ENSP00000393333.2:n.983+25C>G
ENST00000589966.1:c.619C>G ENSP00000468145.1:p.His207Asp
NM_001060.5:c.1008C>G , LRG_578t1:c.1008C>G NP_001051.1:p.Leu336=
NM_201636.2:c.983+25C>G NP_963998.2:n.983+25C>G
XM_011528214.1:c.1008C>G XP_011526516.1:p.Leu336=
XM_011528214.2:c.1008C>G XP_011526516.1:p.Leu336=
NM_001060.6:c.1008C>G MANE Select NP_001051.1:p.Leu336=
NM_201636.3:c.983+25C>G NP_963998.2:n.983+25C>G