Canonical Allele Identifier: CA467493708
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576341C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.909G>A MANE Select ENSP00000345719.4:p.Glu303=
ENST00000651202.1:c.*177G>A ENSP00000498222.1:n.*177G>A
ENST00000351698.4:c.909G>A ENSP00000345719.4:p.Glu303=
ENST00000474192.1:n.493G>A
NM_000113.2:c.909G>A NP_000104.1:p.Glu303=
XR_929731.1:n.1236G>A
XR_929731.3:n.1104G>A
NM_000113.3:c.909G>A MANE Select NP_000104.1:p.Glu303=