Canonical Allele Identifier: CA375197934

Gene: TOR1A

Linked Data

• MyVariant Identifiers: chr9:g.132576456T>A (hg19) ; chr9:g.129814177T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814177T>A , CM000671.2:g.129814177T>A	GRCh38
NC_000009.11:g.132576456T>A , CM000671.1:g.132576456T>A	GRCh37
NC_000009.10:g.131616277T>A	NCBI36
NG_008049.1:g.14986A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.794A>T MANE Select	ENSP00000345719.4:p.Tyr265Phe
ENST00000651202.1:c.*62A>T	ENSP00000498222.1:n.*62A>T
ENST00000351698.4:c.794A>T	ENSP00000345719.4:p.Tyr265Phe
ENST00000474192.1:n.378A>T
NM_000113.2:c.794A>T	NP_000104.1:p.Tyr265Phe
XR_929731.1:n.1121A>T
XR_929731.3:n.989A>T
NM_000113.3:c.794A>T MANE Select	NP_000104.1:p.Tyr265Phe