Canonical Allele Identifier: CA375197601
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814055-A-G
MyVariant Identifiers: chr9:g.132576334A>G (hg19) chr9:g.129814055A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814055A>G , CM000671.2:g.129814055A>G GRCh38
NC_000009.11:g.132576334A>G , CM000671.1:g.132576334A>G GRCh37
NC_000009.10:g.131616155A>G NCBI36
NG_008049.1:g.15108T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.916T>C MANE Select ENSP00000345719.4:p.Phe306Leu
ENST00000651202.1:c.*184T>C ENSP00000498222.1:n.*184T>C
ENST00000351698.4:c.916T>C ENSP00000345719.4:p.Phe306Leu
ENST00000474192.1:n.500T>C
NM_000113.2:c.916T>C NP_000104.1:p.Phe306Leu
XR_929731.1:n.1243T>C
XR_929731.3:n.1111T>C
NM_000113.3:c.916T>C MANE Select NP_000104.1:p.Phe306Leu
Search 100 bp 5'
Search 100 bp 3'