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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:
CA400059348
Gene: TBX21
HGNC
NCBI
Linked Data
dbSNP Id:
rs1288622181
gnomAD v4:
17-47733851-G-A
MyVariant Identifiers:
chr17:g.45811217G>A (hg19)
chr17:g.47733851G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.47733851G>A , CM000679.2:g.47733851G>A
GRCh38
NC_000017.10:g.45811217G>A , CM000679.1:g.45811217G>A
GRCh37
NC_000017.9:g.43166216G>A
NCBI36
NG_012166.1:g.5608G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000177694.2:c.397G>A
MANE Select
ENSP00000177694.1:p.Val133Met
ENST00000177694.1:c.397G>A
ENSP00000177694.1:p.Val133Met
ENST00000581328.1:n.427G>A
NM_013351.1:c.397G>A
NP_037483.1:p.Val133Met
XM_011524698.1:c.397G>A
XP_011523000.1:p.Val133Met
NM_013351.2:c.397G>A
MANE Select
NP_037483.1:p.Val133Met
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