Canonical Allele Identifier: CA403329858
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1161623825
gnomAD v3: 19-3595713-A-G
gnomAD v4: 19-3595713-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595713A>G , CM000681.2:g.3595713A>G GRCh38
NC_000019.9:g.3595711A>G , CM000681.1:g.3595711A>G GRCh37
NC_000019.8:g.3546711A>G NCBI36
NG_013363.1:g.16121T>C , LRG_578:g.16121T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.1007T>C MANE Select ENSP00000364336.4:p.Leu336Pro
ENST00000375190.8:c.1007T>C ENSP00000364336.3:p.Leu336Pro
ENST00000411851.3:c.983+24T>C ENSP00000393333.2:n.983+24T>C
ENST00000589966.1:c.618T>C ENSP00000468145.1:p.Ala206=
NM_001060.5:c.1007T>C , LRG_578t1:c.1007T>C NP_001051.1:p.Leu336Pro
NM_201636.2:c.983+24T>C NP_963998.2:n.983+24T>C
XM_011528214.1:c.1007T>C XP_011526516.1:p.Leu336Pro
XM_011528214.2:c.1007T>C XP_011526516.1:p.Leu336Pro
NM_001060.6:c.1007T>C MANE Select NP_001051.1:p.Leu336Pro
NM_201636.3:c.983+24T>C NP_963998.2:n.983+24T>C