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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA400058834
Gene: TBX21
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr17:g.45811120G>C (hg19)
chr17:g.47733754G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.47733754G>C , CM000679.2:g.47733754G>C
GRCh38
NC_000017.10:g.45811120G>C , CM000679.1:g.45811120G>C
GRCh37
NC_000017.9:g.43166119G>C
NCBI36
NG_012166.1:g.5511G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000177694.2:c.300G>C
MANE Select
ENSP00000177694.1:p.Glu100Asp
ENST00000177694.1:c.300G>C
ENSP00000177694.1:p.Glu100Asp
ENST00000581328.1:n.330G>C
NM_013351.1:c.300G>C
NP_037483.1:p.Glu100Asp
XM_011524698.1:c.300G>C
XP_011523000.1:p.Glu100Asp
NM_013351.2:c.300G>C
MANE Select
NP_037483.1:p.Glu100Asp
Search 100 bp 5'
Search 100 bp 3'