Canonical Allele Identifier: CA653853846

Gene: TOR1A

Linked Data

• COSMIC: COSN6380819

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813653T>G , CM000671.2:g.129813653T>G	GRCh38
NC_000009.11:g.132575932T>G , CM000671.1:g.132575932T>G	GRCh37
NC_000009.10:g.131615753T>G	NCBI36
NG_008049.1:g.15510A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*319A>C MANE Select	ENSP00000345719.4:n.*319A>C
ENST00000651202.1:c.*586A>C	ENSP00000498222.1:n.*586A>C
ENST00000351698.4:c.*319A>C	ENSP00000345719.4:n.*319A>C
ENST00000474192.1:n.902A>C
NM_000113.2:c.*319A>C	NP_000104.1:n.*319A>C
XR_929731.3:n.1513A>C
NM_000113.3:c.*319A>C MANE Select	NP_000104.1:n.*319A>C