Canonical Allele Identifier: CA400050311

Gene: TBX21

Linked Data

• MyVariant Identifiers: chr17:g.45822164G>T (hg19) ; chr17:g.47744798G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47744798G>T , CM000679.2:g.47744798G>T	GRCh38
NC_000017.10:g.45822164G>T , CM000679.1:g.45822164G>T	GRCh37
NC_000017.9:g.43177163G>T	NCBI36
NG_012166.1:g.16555G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000177694.2:c.1040G>T MANE Select	ENSP00000177694.1:p.Cys347Phe
ENST00000177694.1:c.1040G>T	ENSP00000177694.1:p.Cys347Phe
NM_013351.1:c.1040G>T	NP_037483.1:p.Cys347Phe
XM_011524698.1:c.1103G>T	XP_011523000.1:p.Cys368Phe
XM_011524699.1:c.707G>T	XP_011523001.1:p.Cys236Phe
NM_013351.2:c.1040G>T MANE Select	NP_037483.1:p.Cys347Phe