Canonical Allele Identifier: CA1880971218

Gene: TOR1A

Linked Data

• dbSNP Id: rs2030960618
• gnomAD v4: 9-129813867-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813867T>C , CM000671.2:g.129813867T>C	GRCh38
NC_000009.11:g.132576146T>C , CM000671.1:g.132576146T>C	GRCh37
NC_000009.10:g.131615967T>C	NCBI36
NG_008049.1:g.15296A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*105A>G MANE Select	ENSP00000345719.4:n.*105A>G
ENST00000651202.1:c.*372A>G	ENSP00000498222.1:n.*372A>G
ENST00000351698.4:c.*105A>G	ENSP00000345719.4:n.*105A>G
ENST00000474192.1:n.688A>G
NM_000113.2:c.*105A>G	NP_000104.1:n.*105A>G
XR_929731.3:n.1299A>G
NM_000113.3:c.*105A>G MANE Select	NP_000104.1:n.*105A>G