Canonical Allele Identifier: CA8626432
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs569211391
ExAC: 17:45822117 G / A
gnomAD v2: 17-45822117-G-A
gnomAD v3: 17-47744751-G-A
gnomAD v4: 17-47744751-G-A
MyVariant Identifiers: chr17:g.45822117G>A (hg19) chr17:g.47744751G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47744751G>A , CM000679.2:g.47744751G>A GRCh38
NC_000017.10:g.45822117G>A , CM000679.1:g.45822117G>A GRCh37
NC_000017.9:g.43177116G>A NCBI36
NG_012166.1:g.16508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.993G>A MANE Select ENSP00000177694.1:p.Met331Ile
ENST00000177694.1:c.993G>A ENSP00000177694.1:p.Met331Ile
NM_013351.1:c.993G>A NP_037483.1:p.Met331Ile
XM_011524698.1:c.1056G>A XP_011523000.1:p.Met352Ile
XM_011524699.1:c.660G>A XP_011523001.1:p.Met220Ile
NM_013351.2:c.993G>A MANE Select NP_037483.1:p.Met331Ile
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