Canonical Allele Identifier: CA2692045984

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129819069-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129819069A>G , CM000671.2:g.129819069A>G	GRCh38
NC_000009.11:g.132581348A>G , CM000671.1:g.132581348A>G	GRCh37
NC_000009.10:g.131621169A>G	NCBI36
NG_008049.1:g.10094T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-149T>C MANE Select	ENSP00000345719.4:n.445-149T>C
ENST00000651202.1:c.541-149T>C	ENSP00000498222.1:n.541-149T>C
ENST00000351698.4:c.445-149T>C	ENSP00000345719.4:n.445-149T>C
ENST00000473604.2:n.555-149T>C
NM_000113.2:c.445-149T>C	NP_000104.1:n.445-149T>C
XR_929731.1:n.605-149T>C
XR_929731.3:n.473-149T>C
NM_000113.3:c.445-149T>C MANE Select	NP_000104.1:n.445-149T>C