Canonical Allele Identifier: CA375199390
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581188C>A (hg19) chr9:g.129818909C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818909C>A , CM000671.2:g.129818909C>A GRCh38
NC_000009.11:g.132581188C>A , CM000671.1:g.132581188C>A GRCh37
NC_000009.10:g.131621009C>A NCBI36
NG_008049.1:g.10254G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.456G>T MANE Select ENSP00000345719.4:p.Gln152His
ENST00000651202.1:c.552G>T ENSP00000498222.1:p.Gln184His
ENST00000351698.4:c.456G>T ENSP00000345719.4:p.Gln152His
ENST00000473604.2:n.566G>T
NM_000113.2:c.456G>T NP_000104.1:p.Gln152His
XR_929731.1:n.616G>T
XR_929731.3:n.484G>T
NM_000113.3:c.456G>T MANE Select NP_000104.1:p.Gln152His
Search 100 bp 5'
Search 100 bp 3'