Canonical Allele Identifier: CA5278653

Gene: TOR1A

Linked Data

• dbSNP Id: rs781425998
• ExAC: 9:132581229 A / G
• gnomAD v2: 9-132581229-A-G
• gnomAD v4: 9-129818950-A-G
• MyVariant Identifiers: chr9:g.132581229A>G (hg19) ; chr9:g.129818950A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818950A>G , CM000671.2:g.129818950A>G	GRCh38
NC_000009.11:g.132581229A>G , CM000671.1:g.132581229A>G	GRCh37
NC_000009.10:g.131621050A>G	NCBI36
NG_008049.1:g.10213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-30T>C MANE Select	ENSP00000345719.4:n.445-30T>C
ENST00000651202.1:c.541-30T>C	ENSP00000498222.1:n.541-30T>C
ENST00000351698.4:c.445-30T>C	ENSP00000345719.4:n.445-30T>C
ENST00000473604.2:n.555-30T>C
NM_000113.2:c.445-30T>C	NP_000104.1:n.445-30T>C
XR_929731.1:n.605-30T>C
XR_929731.3:n.473-30T>C
NM_000113.3:c.445-30T>C MANE Select	NP_000104.1:n.445-30T>C