Canonical Allele Identifier: CA200533615

Gene: TOR1A

Linked Data

• dbSNP Id: rs948991535
• gnomAD v2: 9-132576063-G-A
• gnomAD v3: 9-129813784-G-A
• gnomAD v4: 9-129813784-G-A
• COSMIC: COSN7557592
• MyVariant Identifiers: chr9:g.132576063G>A (hg19) ; chr9:g.129813784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813784G>A , CM000671.2:g.129813784G>A	GRCh38
NC_000009.11:g.132576063G>A , CM000671.1:g.132576063G>A	GRCh37
NC_000009.10:g.131615884G>A	NCBI36
NG_008049.1:g.15379C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*188C>T MANE Select	ENSP00000345719.4:n.*188C>T
ENST00000651202.1:c.*455C>T	ENSP00000498222.1:n.*455C>T
ENST00000351698.4:c.*188C>T	ENSP00000345719.4:n.*188C>T
ENST00000474192.1:n.771C>T
NM_000113.2:c.*188C>T	NP_000104.1:n.*188C>T
XR_929731.3:n.1382C>T
NM_000113.3:c.*188C>T MANE Select	NP_000104.1:n.*188C>T