Canonical Allele Identifier: CA400058623
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs2032168714
gnomAD v4: 17-47733702-C-T
MyVariant Identifiers: chr17:g.45811068C>T (hg19) chr17:g.47733702C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47733702C>T , CM000679.2:g.47733702C>T GRCh38
NC_000017.10:g.45811068C>T , CM000679.1:g.45811068C>T GRCh37
NC_000017.9:g.43166067C>T NCBI36
NG_012166.1:g.5459C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.248C>T MANE Select ENSP00000177694.1:p.Ala83Val
ENST00000177694.1:c.248C>T ENSP00000177694.1:p.Ala83Val
ENST00000581328.1:n.278C>T
NM_013351.1:c.248C>T NP_037483.1:p.Ala83Val
XM_011524698.1:c.248C>T XP_011523000.1:p.Ala83Val
NM_013351.2:c.248C>T MANE Select NP_037483.1:p.Ala83Val
Search 100 bp 5'
Search 100 bp 3'