Canonical Allele Identifier: CA403330042

Gene: TBXA2R

Linked Data

• MyVariant Identifiers: chr19:g.3595729A>C (hg19) ; chr19:g.3595731A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595731A>C , CM000681.2:g.3595731A>C	GRCh38
NC_000019.9:g.3595729A>C , CM000681.1:g.3595729A>C	GRCh37
NC_000019.8:g.3546729A>C	NCBI36
NG_013363.1:g.16103T>G , LRG_578:g.16103T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.989T>G MANE Select	ENSP00000364336.4:p.Leu330Arg
ENST00000375190.8:c.989T>G	ENSP00000364336.3:p.Leu330Arg
ENST00000411851.3:c.983+6T>G	ENSP00000393333.2:n.983+6T>G
ENST00000589966.1:c.600T>G	ENSP00000468145.1:p.Ala200=
NM_001060.5:c.989T>G , LRG_578t1:c.989T>G	NP_001051.1:p.Leu330Arg
NM_201636.2:c.983+6T>G	NP_963998.2:n.983+6T>G
XM_011528214.1:c.989T>G	XP_011526516.1:p.Leu330Arg
XM_011528214.2:c.989T>G	XP_011526516.1:p.Leu330Arg
NM_001060.6:c.989T>G MANE Select	NP_001051.1:p.Leu330Arg
NM_201636.3:c.983+6T>G	NP_963998.2:n.983+6T>G