Canonical Allele Identifier: CA860375325
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1400867671

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813797G>A , CM000671.2:g.129813797G>A GRCh38
NC_000009.11:g.132576076G>A , CM000671.1:g.132576076G>A GRCh37
NC_000009.10:g.131615897G>A NCBI36
NG_008049.1:g.15366C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*175C>T MANE Select ENSP00000345719.4:n.*175C>T
ENST00000651202.1:c.*442C>T ENSP00000498222.1:n.*442C>T
ENST00000351698.4:c.*175C>T ENSP00000345719.4:n.*175C>T
ENST00000474192.1:n.758C>T
NM_000113.2:c.*175C>T NP_000104.1:n.*175C>T
XR_929731.3:n.1369C>T
NM_000113.3:c.*175C>T MANE Select NP_000104.1:n.*175C>T