Canonical Allele Identifier: CA375199319

Gene: TOR1A

Linked Data

• MyVariant Identifiers: chr9:g.132581154T>A (hg19) ; chr9:g.129818875T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818875T>A , CM000671.2:g.129818875T>A	GRCh38
NC_000009.11:g.132581154T>A , CM000671.1:g.132581154T>A	GRCh37
NC_000009.10:g.131620975T>A	NCBI36
NG_008049.1:g.10288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.490A>T MANE Select	ENSP00000345719.4:p.Arg164Trp
ENST00000651202.1:c.586A>T	ENSP00000498222.1:p.Arg196Trp
ENST00000351698.4:c.490A>T	ENSP00000345719.4:p.Arg164Trp
ENST00000473604.2:n.600A>T
NM_000113.2:c.490A>T	NP_000104.1:p.Arg164Trp
XR_929731.1:n.650A>T
XR_929731.3:n.518A>T
NM_000113.3:c.490A>T MANE Select	NP_000104.1:p.Arg164Trp