Canonical Allele Identifier: CA590684988

Gene: TOR1A

Linked Data

• dbSNP Id: rs1327933406
• gnomAD v2: 9-132575993-C-G
• gnomAD v3: 9-129813714-C-G
• gnomAD v4: 9-129813714-C-G
• MyVariant Identifiers: chr9:g.132575993C>G (hg19) ; chr9:g.129813714C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813714C>G , CM000671.2:g.129813714C>G	GRCh38
NC_000009.11:g.132575993C>G , CM000671.1:g.132575993C>G	GRCh37
NC_000009.10:g.131615814C>G	NCBI36
NG_008049.1:g.15449G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*258G>C MANE Select	ENSP00000345719.4:n.*258G>C
ENST00000651202.1:c.*525G>C	ENSP00000498222.1:n.*525G>C
ENST00000351698.4:c.*258G>C	ENSP00000345719.4:n.*258G>C
ENST00000474192.1:n.841G>C
NM_000113.2:c.*258G>C	NP_000104.1:n.*258G>C
XR_929731.3:n.1452G>C
NM_000113.3:c.*258G>C MANE Select	NP_000104.1:n.*258G>C