Canonical Allele Identifier: CA403329131

Gene: TBXA2R

Linked Data

• dbSNP Id: rs1378169886
• gnomAD v3: 19-3595595-C-A
• gnomAD v4: 19-3595595-C-A
• MyVariant Identifiers: chr19:g.3595593C>A (hg19) ; chr19:g.3595595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595595C>A , CM000681.2:g.3595595C>A	GRCh38
NC_000019.9:g.3595593C>A , CM000681.1:g.3595593C>A	GRCh37
NC_000019.8:g.3546593C>A	NCBI36
NG_013363.1:g.16239G>T , LRG_578:g.16239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.*93G>T MANE Select	ENSP00000364336.4:n.*93G>T
ENST00000375190.8:c.*93G>T	ENSP00000364336.3:n.*93G>T
ENST00000411851.3:c.983+142G>T	ENSP00000393333.2:n.983+142G>T
ENST00000589966.1:c.736G>T	ENSP00000468145.1:p.Gly246Cys
NM_001060.5:c.*93G>T , LRG_578t1:c.*93G>T	NP_001051.1:n.*93G>T
NM_201636.2:c.983+142G>T	NP_963998.2:n.983+142G>T
XM_011528214.2:c.*93G>T	XP_011526516.1:n.*93G>T
NM_001060.6:c.*93G>T MANE Select	NP_001051.1:n.*93G>T
NM_201636.3:c.983+142G>T	NP_963998.2:n.983+142G>T