Canonical Allele Identifier: CA10626575
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 365230
ClinVar RCV Id: RCV000296170
dbSNP Id: rs886063523

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813807C>T , CM000671.2:g.129813807C>T GRCh38
NC_000009.11:g.132576086C>T , CM000671.1:g.132576086C>T GRCh37
NC_000009.10:g.131615907C>T NCBI36
NG_008049.1:g.15356G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*165G>A MANE Select ENSP00000345719.4:n.*165G>A
ENST00000651202.1:c.*432G>A ENSP00000498222.1:n.*432G>A
ENST00000351698.4:c.*165G>A ENSP00000345719.4:n.*165G>A
ENST00000474192.1:n.748G>A
NM_000113.2:c.*165G>A NP_000104.1:n.*165G>A
XR_929731.3:n.1359G>A
NM_000113.3:c.*165G>A MANE Select NP_000104.1:n.*165G>A