Canonical Allele Identifier: CA2692045350

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129813693-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813693A>C , CM000671.2:g.129813693A>C	GRCh38
NC_000009.11:g.132575972A>C , CM000671.1:g.132575972A>C	GRCh37
NC_000009.10:g.131615793A>C	NCBI36
NG_008049.1:g.15470T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*279T>G MANE Select	ENSP00000345719.4:n.*279T>G
ENST00000651202.1:c.*546T>G	ENSP00000498222.1:n.*546T>G
ENST00000351698.4:c.*279T>G	ENSP00000345719.4:n.*279T>G
ENST00000474192.1:n.862T>G
NM_000113.2:c.*279T>G	NP_000104.1:n.*279T>G
XR_929731.3:n.1473T>G
NM_000113.3:c.*279T>G MANE Select	NP_000104.1:n.*279T>G