Canonical Allele Identifier: CA200533723

Gene: TOR1A

Linked Data

• dbSNP Id: rs776884227
• gnomAD v4: 9-129814124-C-T
• MyVariant Identifiers: chr9:g.132576403C>T (hg19) ; chr9:g.129814124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814124C>T , CM000671.2:g.129814124C>T	GRCh38
NC_000009.11:g.132576403C>T , CM000671.1:g.132576403C>T	GRCh37
NC_000009.10:g.131616224C>T	NCBI36
NG_008049.1:g.15039G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.847G>A MANE Select	ENSP00000345719.4:p.Val283Met
ENST00000651202.1:c.*115G>A	ENSP00000498222.1:n.*115G>A
ENST00000351698.4:c.847G>A	ENSP00000345719.4:p.Val283Met
ENST00000474192.1:n.431G>A
NM_000113.2:c.847G>A	NP_000104.1:p.Val283Met
XR_929731.1:n.1174G>A
XR_929731.3:n.1042G>A
NM_000113.3:c.847G>A MANE Select	NP_000104.1:p.Val283Met