Canonical Allele Identifier: CA375199309

Gene: TOR1A

Linked Data

• MyVariant Identifiers: chr9:g.132581150G>A (hg19) ; chr9:g.129818871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818871G>A , CM000671.2:g.129818871G>A	GRCh38
NC_000009.11:g.132581150G>A , CM000671.1:g.132581150G>A	GRCh37
NC_000009.10:g.131620971G>A	NCBI36
NG_008049.1:g.10292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.494C>T MANE Select	ENSP00000345719.4:p.Ser165Phe
ENST00000651202.1:c.590C>T	ENSP00000498222.1:p.Ser197Phe
ENST00000351698.4:c.494C>T	ENSP00000345719.4:p.Ser165Phe
ENST00000473604.2:n.604C>T
NM_000113.2:c.494C>T	NP_000104.1:p.Ser165Phe
XR_929731.1:n.654C>T
XR_929731.3:n.522C>T
NM_000113.3:c.494C>T MANE Select	NP_000104.1:p.Ser165Phe