Canonical Allele Identifier: CA403330510

Gene: TBXA2R

Linked Data

• dbSNP Id: rs1219090061
• gnomAD v2: 19-3595787-A-G
• gnomAD v4: 19-3595789-A-G
• MyVariant Identifiers: chr19:g.3595787A>G (hg19) ; chr19:g.3595789A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595789A>G , CM000681.2:g.3595789A>G	GRCh38
NC_000019.9:g.3595787A>G , CM000681.1:g.3595787A>G	GRCh37
NC_000019.8:g.3546787A>G	NCBI36
NG_013363.1:g.16045T>C , LRG_578:g.16045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.931T>C MANE Select	ENSP00000364336.4:p.Phe311Leu
ENST00000375190.8:c.931T>C	ENSP00000364336.3:p.Phe311Leu
ENST00000411851.3:c.931T>C	ENSP00000393333.2:p.Phe311Leu
ENST00000589966.1:c.542T>C	ENSP00000468145.1:p.Val181Ala
NM_001060.5:c.931T>C , LRG_578t1:c.931T>C	NP_001051.1:p.Phe311Leu
NM_201636.2:c.931T>C	NP_963998.2:p.Phe311Leu
XM_011528214.1:c.931T>C	XP_011526516.1:p.Phe311Leu
XM_011528214.2:c.931T>C	XP_011526516.1:p.Phe311Leu
NM_001060.6:c.931T>C MANE Select	NP_001051.1:p.Phe311Leu
NM_201636.3:c.931T>C	NP_963998.2:p.Phe311Leu