Canonical Allele Identifier: CA467493934

Gene: TOR1A

Linked Data

• MyVariant Identifiers: chr9:g.132581149G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818870G>A , CM000671.2:g.129818870G>A	GRCh38
NC_000009.11:g.132581149G>A , CM000671.1:g.132581149G>A	GRCh37
NC_000009.10:g.131620970G>A	NCBI36
NG_008049.1:g.10293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.495C>T MANE Select	ENSP00000345719.4:p.Ser165=
ENST00000651202.1:c.591C>T	ENSP00000498222.1:p.Ser197=
ENST00000351698.4:c.495C>T	ENSP00000345719.4:p.Ser165=
ENST00000473604.2:n.605C>T
NM_000113.2:c.495C>T	NP_000104.1:p.Ser165=
XR_929731.1:n.655C>T
XR_929731.3:n.523C>T
NM_000113.3:c.495C>T MANE Select	NP_000104.1:p.Ser165=