Canonical Allele Identifier: CA400058530
Gene: TBX21 HGNC NCBI

Linked Data

gnomAD v4: 17-47733693-G-A
MyVariant Identifiers: chr17:g.45811059G>A (hg19) chr17:g.47733693G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47733693G>A , CM000679.2:g.47733693G>A GRCh38
NC_000017.10:g.45811059G>A , CM000679.1:g.45811059G>A GRCh37
NC_000017.9:g.43166058G>A NCBI36
NG_012166.1:g.5450G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.239G>A MANE Select ENSP00000177694.1:p.Arg80Gln
ENST00000177694.1:c.239G>A ENSP00000177694.1:p.Arg80Gln
ENST00000581328.1:n.269G>A
NM_013351.1:c.239G>A NP_037483.1:p.Arg80Gln
XM_011524698.1:c.239G>A XP_011523000.1:p.Arg80Gln
NM_013351.2:c.239G>A MANE Select NP_037483.1:p.Arg80Gln
Search 100 bp 5'
Search 100 bp 3'