Canonical Allele Identifier: CA200533621

Gene: TOR1A

Linked Data

• dbSNP Id: rs995758870
• gnomAD v2: 9-132576088-C-G
• gnomAD v3: 9-129813809-C-G
• gnomAD v4: 9-129813809-C-G
• MyVariant Identifiers: chr9:g.132576088C>G (hg19) ; chr9:g.129813809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813809C>G , CM000671.2:g.129813809C>G	GRCh38
NC_000009.11:g.132576088C>G , CM000671.1:g.132576088C>G	GRCh37
NC_000009.10:g.131615909C>G	NCBI36
NG_008049.1:g.15354G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*163G>C MANE Select	ENSP00000345719.4:n.*163G>C
ENST00000651202.1:c.*430G>C	ENSP00000498222.1:n.*430G>C
ENST00000351698.4:c.*163G>C	ENSP00000345719.4:n.*163G>C
ENST00000474192.1:n.746G>C
NM_000113.2:c.*163G>C	NP_000104.1:n.*163G>C
XR_929731.3:n.1357G>C
NM_000113.3:c.*163G>C MANE Select	NP_000104.1:n.*163G>C