Canonical Allele Identifier: CA200535236
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs922288728
MyVariant Identifiers: chr9:g.132581397A>G (hg19) chr9:g.129819118A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819118A>G , CM000671.2:g.129819118A>G GRCh38
NC_000009.11:g.132581397A>G , CM000671.1:g.132581397A>G GRCh37
NC_000009.10:g.131621218A>G NCBI36
NG_008049.1:g.10045T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-198T>C MANE Select ENSP00000345719.4:n.445-198T>C
ENST00000651202.1:c.541-198T>C ENSP00000498222.1:n.541-198T>C
ENST00000351698.4:c.445-198T>C ENSP00000345719.4:n.445-198T>C
ENST00000473604.2:n.555-198T>C
NM_000113.2:c.445-198T>C NP_000104.1:n.445-198T>C
XR_929731.1:n.605-198T>C
XR_929731.3:n.473-198T>C
NM_000113.3:c.445-198T>C MANE Select NP_000104.1:n.445-198T>C
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