Canonical Allele Identifier: CA375199354
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581172T>A (hg19) chr9:g.129818893T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818893T>A , CM000671.2:g.129818893T>A GRCh38
NC_000009.11:g.132581172T>A , CM000671.1:g.132581172T>A GRCh37
NC_000009.10:g.131620993T>A NCBI36
NG_008049.1:g.10270A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.472A>T MANE Select ENSP00000345719.4:p.Asn158Tyr
ENST00000651202.1:c.568A>T ENSP00000498222.1:p.Asn190Tyr
ENST00000351698.4:c.472A>T ENSP00000345719.4:p.Asn158Tyr
ENST00000473604.2:n.582A>T
NM_000113.2:c.472A>T NP_000104.1:p.Asn158Tyr
XR_929731.1:n.632A>T
XR_929731.3:n.500A>T
NM_000113.3:c.472A>T MANE Select NP_000104.1:p.Asn158Tyr
Search 100 bp 5'
Search 100 bp 3'