×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375197668
Gene: TOR1A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.132576353T>A (hg19)
chr9:g.129814074T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129814074T>A , CM000671.2:g.129814074T>A
GRCh38
NC_000009.11:g.132576353T>A , CM000671.1:g.132576353T>A
GRCh37
NC_000009.10:g.131616174T>A
NCBI36
NG_008049.1:g.15089A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000351698.5:c.897A>T
MANE Select
ENSP00000345719.4:p.Arg299Ser
ENST00000651202.1:c.*165A>T
ENSP00000498222.1:n.*165A>T
ENST00000351698.4:c.897A>T
ENSP00000345719.4:p.Arg299Ser
ENST00000474192.1:n.481A>T
NM_000113.2:c.897A>T
NP_000104.1:p.Arg299Ser
XR_929731.1:n.1224A>T
XR_929731.3:n.1092A>T
NM_000113.3:c.897A>T
MANE Select
NP_000104.1:p.Arg299Ser
Search 100 bp 5'
Search 100 bp 3'