Canonical Allele Identifier: CA9080734
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs751122972
gnomAD v2: 19-3595768-C-A
gnomAD v4: 19-3595770-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595770C>A , CM000681.2:g.3595770C>A GRCh38
NC_000019.9:g.3595768C>A , CM000681.1:g.3595768C>A GRCh37
NC_000019.8:g.3546768C>A NCBI36
NG_013363.1:g.16064G>T , LRG_578:g.16064G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.950G>T MANE Select ENSP00000364336.4:p.Arg317Leu
ENST00000375190.8:c.950G>T ENSP00000364336.3:p.Arg317Leu
ENST00000411851.3:c.950G>T ENSP00000393333.2:p.Arg317Leu
ENST00000589966.1:c.561G>T ENSP00000468145.1:p.Pro187=
NM_001060.5:c.950G>T , LRG_578t1:c.950G>T NP_001051.1:p.Arg317Leu
NM_201636.2:c.950G>T NP_963998.2:p.Arg317Leu
XM_011528214.1:c.950G>T XP_011526516.1:p.Arg317Leu
XM_011528214.2:c.950G>T XP_011526516.1:p.Arg317Leu
NM_001060.6:c.950G>T MANE Select NP_001051.1:p.Arg317Leu
NM_201636.3:c.950G>T NP_963998.2:p.Arg317Leu