Canonical Allele Identifier: CA9080757

Gene: TBXA2R

Linked Data

• dbSNP Id: rs764044824
• ExAC: 19:3595867 C / T
• gnomAD v2: 19-3595867-C-T
• gnomAD v3: 19-3595869-C-T
• gnomAD v4: 19-3595869-C-T
• MyVariant Identifiers: chr19:g.3595867C>T (hg19) ; chr19:g.3595869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595869C>T , CM000681.2:g.3595869C>T	GRCh38
NC_000019.9:g.3595867C>T , CM000681.1:g.3595867C>T	GRCh37
NC_000019.8:g.3546867C>T	NCBI36
NG_013363.1:g.15965G>A , LRG_578:g.15965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.851G>A MANE Select	ENSP00000364336.4:p.Arg284His
ENST00000375190.8:c.851G>A	ENSP00000364336.3:p.Arg284His
ENST00000411851.3:c.851G>A	ENSP00000393333.2:p.Arg284His
ENST00000589966.1:c.462G>A	ENSP00000468145.1:p.Pro154=
NM_001060.5:c.851G>A , LRG_578t1:c.851G>A	NP_001051.1:p.Arg284His
NM_201636.2:c.851G>A	NP_963998.2:p.Arg284His
XM_011528214.1:c.851G>A	XP_011526516.1:p.Arg284His
XM_011528214.2:c.851G>A	XP_011526516.1:p.Arg284His
NM_001060.6:c.851G>A MANE Select	NP_001051.1:p.Arg284His
NM_201636.3:c.851G>A	NP_963998.2:p.Arg284His