Canonical Allele Identifier: CA403331093
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595874-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595874C>G , CM000681.2:g.3595874C>G GRCh38
NC_000019.9:g.3595872C>G , CM000681.1:g.3595872C>G GRCh37
NC_000019.8:g.3546872C>G NCBI36
NG_013363.1:g.15960G>C , LRG_578:g.15960G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.846G>C MANE Select ENSP00000364336.4:p.Leu282=
ENST00000375190.8:c.846G>C ENSP00000364336.3:p.Leu282=
ENST00000411851.3:c.846G>C ENSP00000393333.2:p.Leu282=
ENST00000589966.1:c.457G>C ENSP00000468145.1:p.Val153Leu
NM_001060.5:c.846G>C , LRG_578t1:c.846G>C NP_001051.1:p.Leu282=
NM_201636.2:c.846G>C NP_963998.2:p.Leu282=
XM_011528214.1:c.846G>C XP_011526516.1:p.Leu282=
XM_011528214.2:c.846G>C XP_011526516.1:p.Leu282=
NM_001060.6:c.846G>C MANE Select NP_001051.1:p.Leu282=
NM_201636.3:c.846G>C NP_963998.2:p.Leu282=