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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:
CA291302100
Gene: TBX21
HGNC
NCBI
Linked Data
dbSNP Id:
rs972936207
gnomAD v2:
17-45810932-C-T
gnomAD v3:
17-47733566-C-T
gnomAD v4:
17-47733566-C-T
MyVariant Identifiers:
chr17:g.45810932C>T (hg19)
chr17:g.47733566C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.47733566C>T , CM000679.2:g.47733566C>T
GRCh38
NC_000017.10:g.45810932C>T , CM000679.1:g.45810932C>T
GRCh37
NC_000017.9:g.43165931C>T
NCBI36
NG_012166.1:g.5323C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000177694.2:c.112C>T
MANE Select
ENSP00000177694.1:p.Pro38Ser
ENST00000177694.1:c.112C>T
ENSP00000177694.1:p.Pro38Ser
ENST00000581328.1:n.142C>T
NM_013351.1:c.112C>T
NP_037483.1:p.Pro38Ser
XM_011524698.1:c.112C>T
XP_011523000.1:p.Pro38Ser
NM_013351.2:c.112C>T
MANE Select
NP_037483.1:p.Pro38Ser
Search 100 bp 5'
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