Canonical Allele Identifier: CA2692045974

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129819053-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129819053A>C , CM000671.2:g.129819053A>C	GRCh38
NC_000009.11:g.132581332A>C , CM000671.1:g.132581332A>C	GRCh37
NC_000009.10:g.131621153A>C	NCBI36
NG_008049.1:g.10110T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-133T>G MANE Select	ENSP00000345719.4:n.445-133T>G
ENST00000651202.1:c.541-133T>G	ENSP00000498222.1:n.541-133T>G
ENST00000351698.4:c.445-133T>G	ENSP00000345719.4:n.445-133T>G
ENST00000473604.2:n.555-133T>G
NM_000113.2:c.445-133T>G	NP_000104.1:n.445-133T>G
XR_929731.1:n.605-133T>G
XR_929731.3:n.473-133T>G
NM_000113.3:c.445-133T>G MANE Select	NP_000104.1:n.445-133T>G