Canonical Allele Identifier: CA467493856
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576446G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814167G>C , CM000671.2:g.129814167G>C GRCh38
NC_000009.11:g.132576446G>C , CM000671.1:g.132576446G>C GRCh37
NC_000009.10:g.131616267G>C NCBI36
NG_008049.1:g.14996C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.804C>G MANE Select ENSP00000345719.4:p.Pro268=
ENST00000651202.1:c.*72C>G ENSP00000498222.1:n.*72C>G
ENST00000351698.4:c.804C>G ENSP00000345719.4:p.Pro268=
ENST00000474192.1:n.388C>G
NM_000113.2:c.804C>G NP_000104.1:p.Pro268=
XR_929731.1:n.1131C>G
XR_929731.3:n.999C>G
NM_000113.3:c.804C>G MANE Select NP_000104.1:p.Pro268=