Canonical Allele Identifier: CA403329793

Gene: TBXA2R

Linked Data

• ClinVar Variation Id: 1953770
• ClinVar RCV Id: RCV002714871
• MyVariant Identifiers: chr19:g.3595705T>A (hg19) ; chr19:g.3595707T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595707T>A , CM000681.2:g.3595707T>A	GRCh38
NC_000019.9:g.3595705T>A , CM000681.1:g.3595705T>A	GRCh37
NC_000019.8:g.3546705T>A	NCBI36
NG_013363.1:g.16127A>T , LRG_578:g.16127A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.1013A>T MANE Select	ENSP00000364336.4:p.Gln338Leu
ENST00000375190.8:c.1013A>T	ENSP00000364336.3:p.Gln338Leu
ENST00000411851.3:c.983+30A>T	ENSP00000393333.2:n.983+30A>T
ENST00000589966.1:c.624A>T	ENSP00000468145.1:p.Ala208=
NM_001060.5:c.1013A>T , LRG_578t1:c.1013A>T	NP_001051.1:p.Gln338Leu
NM_201636.2:c.983+30A>T	NP_963998.2:n.983+30A>T
XM_011528214.1:c.1013A>T	XP_011526516.1:p.Gln338Leu
XM_011528214.2:c.1013A>T	XP_011526516.1:p.Gln338Leu
NM_001060.6:c.1013A>T MANE Select	NP_001051.1:p.Gln338Leu
NM_201636.3:c.983+30A>T	NP_963998.2:n.983+30A>T