Canonical Allele Identifier: CA467493832
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576437G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814158G>A , CM000671.2:g.129814158G>A GRCh38
NC_000009.11:g.132576437G>A , CM000671.1:g.132576437G>A GRCh37
NC_000009.10:g.131616258G>A NCBI36
NG_008049.1:g.15005C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.813C>T MANE Select ENSP00000345719.4:p.Pro271=
ENST00000651202.1:c.*81C>T ENSP00000498222.1:n.*81C>T
ENST00000351698.4:c.813C>T ENSP00000345719.4:p.Pro271=
ENST00000474192.1:n.397C>T
NM_000113.2:c.813C>T NP_000104.1:p.Pro271=
XR_929731.1:n.1140C>T
XR_929731.3:n.1008C>T
NM_000113.3:c.813C>T MANE Select NP_000104.1:p.Pro271=
Search 100 bp 5'
Search 100 bp 3'