Canonical Allele Identifier: CA8626441
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs12721469
ExAC: 17:45822150 G / A
gnomAD v2: 17-45822150-G-A
gnomAD v3: 17-47744784-G-A
gnomAD v4: 17-47744784-G-A
MyVariant Identifiers: chr17:g.45822150G>A (hg19) chr17:g.47744784G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47744784G>A , CM000679.2:g.47744784G>A GRCh38
NC_000017.10:g.45822150G>A , CM000679.1:g.45822150G>A GRCh37
NC_000017.9:g.43177149G>A NCBI36
NG_012166.1:g.16541G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.1026G>A MANE Select ENSP00000177694.1:p.Pro342=
ENST00000177694.1:c.1026G>A ENSP00000177694.1:p.Pro342=
NM_013351.1:c.1026G>A NP_037483.1:p.Pro342=
XM_011524698.1:c.1089G>A XP_011523000.1:p.Pro363=
XM_011524699.1:c.693G>A XP_011523001.1:p.Pro231=
NM_013351.2:c.1026G>A MANE Select NP_037483.1:p.Pro342=
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