Canonical Allele Identifier: CA500652789
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs2032172011
gnomAD v4: 17-47733845-C-T
MyVariant Identifiers: chr17:g.45811211C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47733845C>T , CM000679.2:g.47733845C>T GRCh38
NC_000017.10:g.45811211C>T , CM000679.1:g.45811211C>T GRCh37
NC_000017.9:g.43166210C>T NCBI36
NG_012166.1:g.5602C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.391C>T MANE Select ENSP00000177694.1:p.Leu131=
ENST00000177694.1:c.391C>T ENSP00000177694.1:p.Leu131=
ENST00000581328.1:n.421C>T
NM_013351.1:c.391C>T NP_037483.1:p.Leu131=
XM_011524698.1:c.391C>T XP_011523000.1:p.Leu131=
NM_013351.2:c.391C>T MANE Select NP_037483.1:p.Leu131=
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