Canonical Allele Identifier: CA1880971199
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2030960234
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813855A>G , CM000671.2:g.129813855A>G GRCh38
NC_000009.11:g.132576134A>G , CM000671.1:g.132576134A>G GRCh37
NC_000009.10:g.131615955A>G NCBI36
NG_008049.1:g.15308T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*117T>C MANE Select ENSP00000345719.4:n.*117T>C
ENST00000651202.1:c.*384T>C ENSP00000498222.1:n.*384T>C
ENST00000351698.4:c.*117T>C ENSP00000345719.4:n.*117T>C
ENST00000474192.1:n.700T>C
NM_000113.2:c.*117T>C NP_000104.1:n.*117T>C
XR_929731.3:n.1311T>C
NM_000113.3:c.*117T>C MANE Select NP_000104.1:n.*117T>C
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