Canonical Allele Identifier: CA2692045966

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129819047-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129819047G>A , CM000671.2:g.129819047G>A	GRCh38
NC_000009.11:g.132581326G>A , CM000671.1:g.132581326G>A	GRCh37
NC_000009.10:g.131621147G>A	NCBI36
NG_008049.1:g.10116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-127C>T MANE Select	ENSP00000345719.4:n.445-127C>T
ENST00000651202.1:c.541-127C>T	ENSP00000498222.1:n.541-127C>T
ENST00000351698.4:c.445-127C>T	ENSP00000345719.4:n.445-127C>T
ENST00000473604.2:n.555-127C>T
NM_000113.2:c.445-127C>T	NP_000104.1:n.445-127C>T
XR_929731.1:n.605-127C>T
XR_929731.3:n.473-127C>T
NM_000113.3:c.445-127C>T MANE Select	NP_000104.1:n.445-127C>T