Canonical Allele Identifier: CA375197936
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814177T>G , CM000671.2:g.129814177T>G GRCh38
NC_000009.11:g.132576456T>G , CM000671.1:g.132576456T>G GRCh37
NC_000009.10:g.131616277T>G NCBI36
NG_008049.1:g.14986A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.794A>C MANE Select ENSP00000345719.4:p.Tyr265Ser
ENST00000651202.1:c.*62A>C ENSP00000498222.1:n.*62A>C
ENST00000351698.4:c.794A>C ENSP00000345719.4:p.Tyr265Ser
ENST00000474192.1:n.378A>C
NM_000113.2:c.794A>C NP_000104.1:p.Tyr265Ser
XR_929731.1:n.1121A>C
XR_929731.3:n.989A>C
NM_000113.3:c.794A>C MANE Select NP_000104.1:p.Tyr265Ser