Canonical Allele Identifier: CA1880970904

Gene: TOR1A

Linked Data

• dbSNP Id: rs2030951804
• gnomAD v4: 9-129813641-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813641A>G , CM000671.2:g.129813641A>G	GRCh38
NC_000009.11:g.132575920A>G , CM000671.1:g.132575920A>G	GRCh37
NC_000009.10:g.131615741A>G	NCBI36
NG_008049.1:g.15522T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*331T>C MANE Select	ENSP00000345719.4:n.*331T>C
ENST00000651202.1:c.*598T>C	ENSP00000498222.1:n.*598T>C
ENST00000351698.4:c.*331T>C	ENSP00000345719.4:n.*331T>C
ENST00000474192.1:n.914T>C
NM_000113.2:c.*331T>C	NP_000104.1:n.*331T>C
XR_929731.3:n.1525T>C
NM_000113.3:c.*331T>C MANE Select	NP_000104.1:n.*331T>C