Canonical Allele Identifier: CA1129452289
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2030958697

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813791C>G , CM000671.2:g.129813791C>G GRCh38
NC_000009.11:g.132576070C>G , CM000671.1:g.132576070C>G GRCh37
NC_000009.10:g.131615891C>G NCBI36
NG_008049.1:g.15372G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*181G>C MANE Select ENSP00000345719.4:n.*181G>C
ENST00000651202.1:c.*448G>C ENSP00000498222.1:n.*448G>C
ENST00000351698.4:c.*181G>C ENSP00000345719.4:n.*181G>C
ENST00000474192.1:n.764G>C
NM_000113.2:c.*181G>C NP_000104.1:n.*181G>C
XR_929731.3:n.1375G>C
NM_000113.3:c.*181G>C MANE Select NP_000104.1:n.*181G>C