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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:
CA2579478291
Gene: TOR1A
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129813943G>A , CM000671.2:g.129813943G>A
GRCh38
NC_000009.11:g.132576222G>A , CM000671.1:g.132576222G>A
GRCh37
NC_000009.10:g.131616043G>A
NCBI36
NG_008049.1:g.15220C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000351698.5:c.*29C>T
MANE Select
ENSP00000345719.4:n.*29C>T
ENST00000651202.1:c.*296C>T
ENSP00000498222.1:n.*296C>T
ENST00000351698.4:c.*29C>T
ENSP00000345719.4:n.*29C>T
ENST00000474192.1:n.612C>T
NM_000113.2:c.*29C>T
NP_000104.1:n.*29C>T
XR_929731.3:n.1223C>T
NM_000113.3:c.*29C>T
MANE Select
NP_000104.1:n.*29C>T
Search 100 bp 5'
Search 100 bp 3'