Canonical Allele Identifier: CA500450740
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs1298607152
gnomAD v2: 17-45822144-C-T
MyVariant Identifiers: chr17:g.45822144C>T (hg19) chr17:g.47744778C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47744778C>T , CM000679.2:g.47744778C>T GRCh38
NC_000017.10:g.45822144C>T , CM000679.1:g.45822144C>T GRCh37
NC_000017.9:g.43177143C>T NCBI36
NG_012166.1:g.16535C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.1020C>T MANE Select ENSP00000177694.1:p.Pro340=
ENST00000177694.1:c.1020C>T ENSP00000177694.1:p.Pro340=
NM_013351.1:c.1020C>T NP_037483.1:p.Pro340=
XM_011524698.1:c.1083C>T XP_011523000.1:p.Pro361=
XM_011524699.1:c.687C>T XP_011523001.1:p.Pro229=
NM_013351.2:c.1020C>T MANE Select NP_037483.1:p.Pro340=
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