Canonical Allele Identifier: CA400050183

Gene: TBX21

Linked Data

• MyVariant Identifiers: chr17:g.45822146C>T (hg19) ; chr17:g.47744780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47744780C>T , CM000679.2:g.47744780C>T	GRCh38
NC_000017.10:g.45822146C>T , CM000679.1:g.45822146C>T	GRCh37
NC_000017.9:g.43177145C>T	NCBI36
NG_012166.1:g.16537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000177694.2:c.1022C>T MANE Select	ENSP00000177694.1:p.Ser341Phe
ENST00000177694.1:c.1022C>T	ENSP00000177694.1:p.Ser341Phe
NM_013351.1:c.1022C>T	NP_037483.1:p.Ser341Phe
XM_011524698.1:c.1085C>T	XP_011523000.1:p.Ser362Phe
XM_011524699.1:c.689C>T	XP_011523001.1:p.Ser230Phe
NM_013351.2:c.1022C>T MANE Select	NP_037483.1:p.Ser341Phe