Canonical Allele Identifier: CA400058432
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs1442521667
gnomAD v2: 17-45811046-G-C
gnomAD v3: 17-47733680-G-C
gnomAD v4: 17-47733680-G-C
MyVariant Identifiers: chr17:g.45811046G>C (hg19) chr17:g.47733680G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47733680G>C , CM000679.2:g.47733680G>C GRCh38
NC_000017.10:g.45811046G>C , CM000679.1:g.45811046G>C GRCh37
NC_000017.9:g.43166045G>C NCBI36
NG_012166.1:g.5437G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.226G>C MANE Select ENSP00000177694.1:p.Ala76Pro
ENST00000177694.1:c.226G>C ENSP00000177694.1:p.Ala76Pro
ENST00000581328.1:n.256G>C
NM_013351.1:c.226G>C NP_037483.1:p.Ala76Pro
XM_011524698.1:c.226G>C XP_011523000.1:p.Ala76Pro
NM_013351.2:c.226G>C MANE Select NP_037483.1:p.Ala76Pro
Search 100 bp 5'
Search 100 bp 3'