Canonical Allele Identifier: CA375197464
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814025-C-G
MyVariant Identifiers: chr9:g.132576304C>G (hg19) chr9:g.129814025C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814025C>G , CM000671.2:g.129814025C>G GRCh38
NC_000009.11:g.132576304C>G , CM000671.1:g.132576304C>G GRCh37
NC_000009.10:g.131616125C>G NCBI36
NG_008049.1:g.15138G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.946G>C MANE Select ENSP00000345719.4:p.Asp316His
ENST00000651202.1:c.*214G>C ENSP00000498222.1:n.*214G>C
ENST00000351698.4:c.946G>C ENSP00000345719.4:p.Asp316His
ENST00000474192.1:n.530G>C
NM_000113.2:c.946G>C NP_000104.1:p.Asp316His
XR_929731.3:n.1141G>C
NM_000113.3:c.946G>C MANE Select NP_000104.1:p.Asp316His
Search 100 bp 5'
Search 100 bp 3'