Canonical Allele Identifier: CA5278635

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 408885
• ClinVar RCV Id: RCV000461812 ; RCV001168217 ; RCV003884548
• dbSNP Id: rs142909469
• ExAC: 9:132581156 G / A
• gnomAD v2: 9-132581156-G-A
• gnomAD v3: 9-129818877-G-A
• gnomAD v4: 9-129818877-G-A
• MyVariant Identifiers: chr9:g.132581156G>A (hg19) ; chr9:g.129818877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818877G>A , CM000671.2:g.129818877G>A	GRCh38
NC_000009.11:g.132581156G>A , CM000671.1:g.132581156G>A	GRCh37
NC_000009.10:g.131620977G>A	NCBI36
NG_008049.1:g.10286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.488C>T MANE Select	ENSP00000345719.4:p.Ala163Val
ENST00000651202.1:c.584C>T	ENSP00000498222.1:p.Ala195Val
ENST00000351698.4:c.488C>T	ENSP00000345719.4:p.Ala163Val
ENST00000473604.2:n.598C>T
NM_000113.2:c.488C>T	NP_000104.1:p.Ala163Val
XR_929731.1:n.648C>T
XR_929731.3:n.516C>T
NM_000113.3:c.488C>T MANE Select	NP_000104.1:p.Ala163Val