Canonical Allele Identifier: CA400050503

Gene: TBX21

Linked Data

• COSMIC: COSM5540162
• MyVariant Identifiers: chr17:g.45822184C>T (hg19) ; chr17:g.47744818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47744818C>T , CM000679.2:g.47744818C>T	GRCh38
NC_000017.10:g.45822184C>T , CM000679.1:g.45822184C>T	GRCh37
NC_000017.9:g.43177183C>T	NCBI36
NG_012166.1:g.16575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000177694.2:c.1060C>T MANE Select	ENSP00000177694.1:p.His354Tyr
ENST00000177694.1:c.1060C>T	ENSP00000177694.1:p.His354Tyr
NM_013351.1:c.1060C>T	NP_037483.1:p.His354Tyr
XM_011524698.1:c.1123C>T	XP_011523000.1:p.His375Tyr
XM_011524699.1:c.727C>T	XP_011523001.1:p.His243Tyr
NM_013351.2:c.1060C>T MANE Select	NP_037483.1:p.His354Tyr