Canonical Allele Identifier: CA2580893972

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818942C>G , CM000671.2:g.129818942C>G	GRCh38
NC_000009.11:g.132581221C>G , CM000671.1:g.132581221C>G	GRCh37
NC_000009.10:g.131621042C>G	NCBI36
NG_008049.1:g.10221G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-22G>C MANE Select	ENSP00000345719.4:n.445-22G>C
ENST00000651202.1:c.541-22G>C	ENSP00000498222.1:n.541-22G>C
ENST00000351698.4:c.445-22G>C	ENSP00000345719.4:n.445-22G>C
ENST00000473604.2:n.555-22G>C
NM_000113.2:c.445-22G>C	NP_000104.1:n.445-22G>C
XR_929731.1:n.605-22G>C
XR_929731.3:n.473-22G>C
NM_000113.3:c.445-22G>C MANE Select	NP_000104.1:n.445-22G>C