Canonical Allele Identifier: CA403330021

Gene: TBXA2R

Linked Data

• MyVariant Identifiers: chr19:g.3595727A>C (hg19) ; chr19:g.3595729A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595729A>C , CM000681.2:g.3595729A>C	GRCh38
NC_000019.9:g.3595727A>C , CM000681.1:g.3595727A>C	GRCh37
NC_000019.8:g.3546727A>C	NCBI36
NG_013363.1:g.16105T>G , LRG_578:g.16105T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.991T>G MANE Select	ENSP00000364336.4:p.Ser331Ala
ENST00000375190.8:c.991T>G	ENSP00000364336.3:p.Ser331Ala
ENST00000411851.3:c.983+8T>G	ENSP00000393333.2:n.983+8T>G
ENST00000589966.1:c.602T>G	ENSP00000468145.1:p.Val201Gly
NM_001060.5:c.991T>G , LRG_578t1:c.991T>G	NP_001051.1:p.Ser331Ala
NM_201636.2:c.983+8T>G	NP_963998.2:n.983+8T>G
XM_011528214.1:c.991T>G	XP_011526516.1:p.Ser331Ala
XM_011528214.2:c.991T>G	XP_011526516.1:p.Ser331Ala
NM_001060.6:c.991T>G MANE Select	NP_001051.1:p.Ser331Ala
NM_201636.3:c.983+8T>G	NP_963998.2:n.983+8T>G