Canonical Allele Identifier: CA5278516

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 255139
• ClinVar RCV Id: RCV000244778 ; RCV004020998
• dbSNP Id: rs774259802
• ExAC: 9:132576375 A / G
• gnomAD v2: 9-132576375-A-G
• gnomAD v3: 9-129814096-A-G
• gnomAD v4: 9-129814096-A-G
• MyVariant Identifiers: chr9:g.132576375A>G (hg19) ; chr9:g.129814096A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814096A>G , CM000671.2:g.129814096A>G	GRCh38
NC_000009.11:g.132576375A>G , CM000671.1:g.132576375A>G	GRCh37
NC_000009.10:g.131616196A>G	NCBI36
NG_008049.1:g.15067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.875T>C MANE Select	ENSP00000345719.4:p.Ile292Thr
ENST00000651202.1:c.*143T>C	ENSP00000498222.1:n.*143T>C
ENST00000351698.4:c.875T>C	ENSP00000345719.4:p.Ile292Thr
ENST00000474192.1:n.459T>C
NM_000113.2:c.875T>C	NP_000104.1:p.Ile292Thr
XR_929731.1:n.1202T>C
XR_929731.3:n.1070T>C
NM_000113.3:c.875T>C MANE Select	NP_000104.1:p.Ile292Thr