Canonical Allele Identifier: CA400050288

Gene: TBX21

Linked Data

• MyVariant Identifiers: chr17:g.45822162C>A (hg19) ; chr17:g.47744796C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47744796C>A , CM000679.2:g.47744796C>A	GRCh38
NC_000017.10:g.45822162C>A , CM000679.1:g.45822162C>A	GRCh37
NC_000017.9:g.43177161C>A	NCBI36
NG_012166.1:g.16553C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000177694.2:c.1038C>A MANE Select	ENSP00000177694.1:p.Asn346Lys
ENST00000177694.1:c.1038C>A	ENSP00000177694.1:p.Asn346Lys
NM_013351.1:c.1038C>A	NP_037483.1:p.Asn346Lys
XM_011524698.1:c.1101C>A	XP_011523000.1:p.Asn367Lys
XM_011524699.1:c.705C>A	XP_011523001.1:p.Asn235Lys
NM_013351.2:c.1038C>A MANE Select	NP_037483.1:p.Asn346Lys