Canonical Allele Identifier: CA400050532
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs759136182
gnomAD v2: 17-45822187-T-G
gnomAD v3: 17-47744821-T-G
gnomAD v4: 17-47744821-T-G
MyVariant Identifiers: chr17:g.45822187T>G (hg19) chr17:g.47744821T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47744821T>G , CM000679.2:g.47744821T>G GRCh38
NC_000017.10:g.45822187T>G , CM000679.1:g.45822187T>G GRCh37
NC_000017.9:g.43177186T>G NCBI36
NG_012166.1:g.16578T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.1063T>G MANE Select ENSP00000177694.1:p.Tyr355Asp
ENST00000177694.1:c.1063T>G ENSP00000177694.1:p.Tyr355Asp
NM_013351.1:c.1063T>G NP_037483.1:p.Tyr355Asp
XM_011524698.1:c.1126T>G XP_011523000.1:p.Tyr376Asp
XM_011524699.1:c.730T>G XP_011523001.1:p.Tyr244Asp
NM_013351.2:c.1063T>G MANE Select NP_037483.1:p.Tyr355Asp
Search 100 bp 5'
Search 100 bp 3'