Canonical Allele Identifier: CA2692045922

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129818975-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818975A>C , CM000671.2:g.129818975A>C	GRCh38
NC_000009.11:g.132581254A>C , CM000671.1:g.132581254A>C	GRCh37
NC_000009.10:g.131621075A>C	NCBI36
NG_008049.1:g.10188T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-55T>G MANE Select	ENSP00000345719.4:n.445-55T>G
ENST00000651202.1:c.541-55T>G	ENSP00000498222.1:n.541-55T>G
ENST00000351698.4:c.445-55T>G	ENSP00000345719.4:n.445-55T>G
ENST00000473604.2:n.555-55T>G
NM_000113.2:c.445-55T>G	NP_000104.1:n.445-55T>G
XR_929731.1:n.605-55T>G
XR_929731.3:n.473-55T>G
NM_000113.3:c.445-55T>G MANE Select	NP_000104.1:n.445-55T>G