Canonical Allele Identifier: CA375197638
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1161294295
gnomAD v3: 9-129814062-C-G
gnomAD v4: 9-129814062-C-G
MyVariant Identifiers: chr9:g.132576341C>G (hg19) chr9:g.129814062C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814062C>G , CM000671.2:g.129814062C>G GRCh38
NC_000009.11:g.132576341C>G , CM000671.1:g.132576341C>G GRCh37
NC_000009.10:g.131616162C>G NCBI36
NG_008049.1:g.15101G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.909G>C MANE Select ENSP00000345719.4:p.Glu303Asp
ENST00000651202.1:c.*177G>C ENSP00000498222.1:n.*177G>C
ENST00000351698.4:c.909G>C ENSP00000345719.4:p.Glu303Asp
ENST00000474192.1:n.493G>C
NM_000113.2:c.909G>C NP_000104.1:p.Glu303Asp
XR_929731.1:n.1236G>C
XR_929731.3:n.1104G>C
NM_000113.3:c.909G>C MANE Select NP_000104.1:p.Glu303Asp
Search 100 bp 5'
Search 100 bp 3'