Canonical Allele Identifier: CA291302319
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs1041075061
gnomAD v3: 17-47733887-C-T
gnomAD v4: 17-47733887-C-T
MyVariant Identifiers: chr17:g.45811253C>T (hg19) chr17:g.47733887C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47733887C>T , CM000679.2:g.47733887C>T GRCh38
NC_000017.10:g.45811253C>T , CM000679.1:g.45811253C>T GRCh37
NC_000017.9:g.43166252C>T NCBI36
NG_012166.1:g.5644C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.433C>T MANE Select ENSP00000177694.1:p.Leu145=
ENST00000177694.1:c.433C>T ENSP00000177694.1:p.Leu145=
ENST00000581328.1:n.463C>T
NM_013351.1:c.433C>T NP_037483.1:p.Leu145=
XM_011524698.1:c.433C>T XP_011523000.1:p.Leu145=
NM_013351.2:c.433C>T MANE Select NP_037483.1:p.Leu145=
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