Canonical Allele Identifier: CA400050632

Gene: TBX21

Linked Data

• MyVariant Identifiers: chr17:g.45822199C>G (hg19) ; chr17:g.47744833C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47744833C>G , CM000679.2:g.47744833C>G	GRCh38
NC_000017.10:g.45822199C>G , CM000679.1:g.45822199C>G	GRCh37
NC_000017.9:g.43177198C>G	NCBI36
NG_012166.1:g.16590C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000177694.2:c.1075C>G MANE Select	ENSP00000177694.1:p.Leu359Val
ENST00000177694.1:c.1075C>G	ENSP00000177694.1:p.Leu359Val
NM_013351.1:c.1075C>G	NP_037483.1:p.Leu359Val
XM_011524698.1:c.1138C>G	XP_011523000.1:p.Leu380Val
XM_011524699.1:c.742C>G	XP_011523001.1:p.Leu248Val
NM_013351.2:c.1075C>G MANE Select	NP_037483.1:p.Leu359Val