Canonical Allele Identifier: CA9080746

Gene: TBXA2R

Linked Data

• dbSNP Id: rs780269189
• ExAC: 19:3595834 C / T
• gnomAD v2: 19-3595834-C-T
• gnomAD v3: 19-3595836-C-T
• gnomAD v4: 19-3595836-C-T
• MyVariant Identifiers: chr19:g.3595834C>T (hg19) ; chr19:g.3595836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595836C>T , CM000681.2:g.3595836C>T	GRCh38
NC_000019.9:g.3595834C>T , CM000681.1:g.3595834C>T	GRCh37
NC_000019.8:g.3546834C>T	NCBI36
NG_013363.1:g.15998G>A , LRG_578:g.15998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.884G>A MANE Select	ENSP00000364336.4:p.Arg295His
ENST00000375190.8:c.884G>A	ENSP00000364336.3:p.Arg295His
ENST00000411851.3:c.884G>A	ENSP00000393333.2:p.Arg295His
ENST00000589966.1:c.495G>A	ENSP00000468145.1:p.Ala165=
NM_001060.5:c.884G>A , LRG_578t1:c.884G>A	NP_001051.1:p.Arg295His
NM_201636.2:c.884G>A	NP_963998.2:p.Arg295His
XM_011528214.1:c.884G>A	XP_011526516.1:p.Arg295His
XM_011528214.2:c.884G>A	XP_011526516.1:p.Arg295His
NM_001060.6:c.884G>A MANE Select	NP_001051.1:p.Arg295His
NM_201636.3:c.884G>A	NP_963998.2:p.Arg295His