Canonical Allele Identifier: CA375197991
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576468T>A (hg19) chr9:g.129814189T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814189T>A , CM000671.2:g.129814189T>A GRCh38
NC_000009.11:g.132576468T>A , CM000671.1:g.132576468T>A GRCh37
NC_000009.10:g.131616289T>A NCBI36
NG_008049.1:g.14974A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.782A>T MANE Select ENSP00000345719.4:p.Asn261Ile
ENST00000651202.1:c.*50A>T ENSP00000498222.1:n.*50A>T
ENST00000351698.4:c.782A>T ENSP00000345719.4:p.Asn261Ile
ENST00000474192.1:n.366A>T
NM_000113.2:c.782A>T NP_000104.1:p.Asn261Ile
XR_929731.1:n.1109A>T
XR_929731.3:n.977A>T
NM_000113.3:c.782A>T MANE Select NP_000104.1:p.Asn261Ile
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