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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:
CA5788292
Gene: TALDO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306137
ClinVar RCV Id:
RCV000311153
RCV000959895
dbSNP Id:
rs142263629
ExAC:
11:763910 C / T
gnomAD v2:
11-763910-C-T
gnomAD v3:
11-763910-C-T
gnomAD v4:
11-763910-C-T
COSMIC:
COSM294062
MyVariant Identifiers:
chr11:g.763910C>T (hg19)
chr11:g.763910C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.763910C>T , CM000673.2:g.763910C>T
GRCh38
NC_000011.9:g.763910C>T , CM000673.1:g.763910C>T
GRCh37
NC_000011.8:g.753910C>T
NCBI36
NG_008160.1:g.21479C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000319006.8:c.801C>T
MANE Select
ENSP00000321259.3:p.Asn267=
ENST00000319006.7:c.801C>T
ENSP00000321259.3:p.Asn267=
ENST00000528097.5:c.801C>T
ENSP00000437098.1:p.Asn267=
NM_006755.1:c.801C>T
NP_006746.1:p.Asn267=
NM_006755.2:c.801C>T
MANE Select
NP_006746.1:p.Asn267=
Search 100 bp 5'
Search 100 bp 3'