Canonical Allele Identifier: CA403329974

Gene: TBXA2R

Linked Data

• gnomAD v4: 19-3595724-G-C
• MyVariant Identifiers: chr19:g.3595722G>C (hg19) ; chr19:g.3595724G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595724G>C , CM000681.2:g.3595724G>C	GRCh38
NC_000019.9:g.3595722G>C , CM000681.1:g.3595722G>C	GRCh37
NC_000019.8:g.3546722G>C	NCBI36
NG_013363.1:g.16110C>G , LRG_578:g.16110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.996C>G MANE Select	ENSP00000364336.4:p.Leu332=
ENST00000375190.8:c.996C>G	ENSP00000364336.3:p.Leu332=
ENST00000411851.3:c.983+13C>G	ENSP00000393333.2:n.983+13C>G
ENST00000589966.1:c.607C>G	ENSP00000468145.1:p.Pro203Ala
NM_001060.5:c.996C>G , LRG_578t1:c.996C>G	NP_001051.1:p.Leu332=
NM_201636.2:c.983+13C>G	NP_963998.2:n.983+13C>G
XM_011528214.1:c.996C>G	XP_011526516.1:p.Leu332=
XM_011528214.2:c.996C>G	XP_011526516.1:p.Leu332=
NM_001060.6:c.996C>G MANE Select	NP_001051.1:p.Leu332=
NM_201636.3:c.983+13C>G	NP_963998.2:n.983+13C>G