Canonical Allele Identifier: CA403329881

Gene: TBXA2R

Linked Data

• gnomAD v4: 19-3595714-G-T
• MyVariant Identifiers: chr19:g.3595712G>T (hg19) ; chr19:g.3595714G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595714G>T , CM000681.2:g.3595714G>T	GRCh38
NC_000019.9:g.3595712G>T , CM000681.1:g.3595712G>T	GRCh37
NC_000019.8:g.3546712G>T	NCBI36
NG_013363.1:g.16120C>A , LRG_578:g.16120C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.1006C>A MANE Select	ENSP00000364336.4:p.Leu336Ile
ENST00000375190.8:c.1006C>A	ENSP00000364336.3:p.Leu336Ile
ENST00000411851.3:c.983+23C>A	ENSP00000393333.2:n.983+23C>A
ENST00000589966.1:c.617C>A	ENSP00000468145.1:p.Ala206Asp
NM_001060.5:c.1006C>A , LRG_578t1:c.1006C>A	NP_001051.1:p.Leu336Ile
NM_201636.2:c.983+23C>A	NP_963998.2:n.983+23C>A
XM_011528214.1:c.1006C>A	XP_011526516.1:p.Leu336Ile
XM_011528214.2:c.1006C>A	XP_011526516.1:p.Leu336Ile
NM_001060.6:c.1006C>A MANE Select	NP_001051.1:p.Leu336Ile
NM_201636.3:c.983+23C>A	NP_963998.2:n.983+23C>A