Canonical Allele Identifier: CA1880971306
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1588214657

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813949A>C , CM000671.2:g.129813949A>C GRCh38
NC_000009.11:g.132576228A>C , CM000671.1:g.132576228A>C GRCh37
NC_000009.10:g.131616049A>C NCBI36
NG_008049.1:g.15214T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*23T>G MANE Select ENSP00000345719.4:n.*23T>G
ENST00000651202.1:c.*290T>G ENSP00000498222.1:n.*290T>G
ENST00000351698.4:c.*23T>G ENSP00000345719.4:n.*23T>G
ENST00000474192.1:n.606T>G
NM_000113.2:c.*23T>G NP_000104.1:n.*23T>G
XR_929731.3:n.1217T>G
NM_000113.3:c.*23T>G MANE Select NP_000104.1:n.*23T>G