Canonical Allele Identifier: CA403329047

Gene: TBXA2R

Linked Data

• MyVariant Identifiers: chr19:g.3595572T>A (hg19) ; chr19:g.3595574T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595574T>A , CM000681.2:g.3595574T>A	GRCh38
NC_000019.9:g.3595572T>A , CM000681.1:g.3595572T>A	GRCh37
NC_000019.8:g.3546572T>A	NCBI36
NG_013363.1:g.16260A>T , LRG_578:g.16260A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.*114A>T MANE Select	ENSP00000364336.4:n.*114A>T
ENST00000375190.8:c.*114A>T	ENSP00000364336.3:n.*114A>T
ENST00000411851.3:c.983+163A>T	ENSP00000393333.2:n.983+163A>T
ENST00000589966.1:c.757A>T	ENSP00000468145.1:p.Ile253Phe
NM_001060.5:c.*114A>T , LRG_578t1:c.*114A>T	NP_001051.1:n.*114A>T
NM_201636.2:c.983+163A>T	NP_963998.2:n.983+163A>T
NM_001060.6:c.*114A>T MANE Select	NP_001051.1:n.*114A>T
NM_201636.3:c.983+163A>T	NP_963998.2:n.983+163A>T