Canonical Allele Identifier: CA400059304
Gene: TBX21 HGNC NCBI

Linked Data

gnomAD v4: 17-47733846-T-G
MyVariant Identifiers: chr17:g.45811212T>G (hg19) chr17:g.47733846T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47733846T>G , CM000679.2:g.47733846T>G GRCh38
NC_000017.10:g.45811212T>G , CM000679.1:g.45811212T>G GRCh37
NC_000017.9:g.43166211T>G NCBI36
NG_012166.1:g.5603T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.392T>G MANE Select ENSP00000177694.1:p.Leu131Arg
ENST00000177694.1:c.392T>G ENSP00000177694.1:p.Leu131Arg
ENST00000581328.1:n.422T>G
NM_013351.1:c.392T>G NP_037483.1:p.Leu131Arg
XM_011524698.1:c.392T>G XP_011523000.1:p.Leu131Arg
NM_013351.2:c.392T>G MANE Select NP_037483.1:p.Leu131Arg
Search 100 bp 5'
Search 100 bp 3'