Canonical Allele Identifier: CA400050338
Gene: TBX21 HGNC NCBI

Linked Data

COSMIC: COSM5028318
MyVariant Identifiers: chr17:g.45822167A>C (hg19) chr17:g.47744801A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47744801A>C , CM000679.2:g.47744801A>C GRCh38
NC_000017.10:g.45822167A>C , CM000679.1:g.45822167A>C GRCh37
NC_000017.9:g.43177166A>C NCBI36
NG_012166.1:g.16558A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.1043A>C MANE Select ENSP00000177694.1:p.Gln348Pro
ENST00000177694.1:c.1043A>C ENSP00000177694.1:p.Gln348Pro
NM_013351.1:c.1043A>C NP_037483.1:p.Gln348Pro
XM_011524698.1:c.1106A>C XP_011523000.1:p.Gln369Pro
XM_011524699.1:c.710A>C XP_011523001.1:p.Gln237Pro
NM_013351.2:c.1043A>C MANE Select NP_037483.1:p.Gln348Pro
Search 100 bp 5'
Search 100 bp 3'